14-105850722-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105850722
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105850722
    reference: chr 14
allele count: 2
allele frequency: 1.737800639510635e-5
allele num: 115088
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393524
  ensembl transcript: ENST00000430725
  gene symbol: PACS2
  hgvsc: ENST00000430725.2:c.1576G>A
  hgvsp: ENSP00000393524.2:p.Val526Met
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393559
  ensembl transcript: ENST00000447393
  gene symbol: PACS2
  hgvsc: ENST00000447393.1:c.1813G>A
  hgvsp: ENSP00000393559.1:p.Val605Met
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000399732
  ensembl transcript: ENST00000458164
  gene symbol: PACS2
  hgvsc: ENST00000458164.2:c.1813G>A
  hgvsp: ENSP00000399732.2:p.Val605Met
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000551692
  gene symbol: PACS2
  hgvsc: ENST00000551692.1:n.2043G>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449525
  ensembl transcript: ENST00000547217
  gene symbol: PACS2
  hgvsc: ENST00000547217.1:c.1711G>A
  hgvsp: ENSP00000449525.1:p.Val571Met
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449254
  ensembl transcript: ENST00000551743
  gene symbol: PACS2
  hgvsc: ENST00000551743.1:c.343G>A
  hgvsp: ENSP00000449254.1:p.Val115Met
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000321834
  ensembl transcript: ENST00000325438
  gene symbol: PACS2
  hgvsc: ENST00000325438.8:c.1801G>A
  hgvsp: ENSP00000321834.8:p.Val601Met
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000547903
  gene symbol: PACS2
  hgvsc: ENST00000547903.1:n.535G>A
  variant of: http://identifiers.org/hgnc/23794
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12993
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40082
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2599
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 751
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val605Met
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

14-105850727-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105850727
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105850727
    reference: chr 14
allele count: 1
allele frequency: 8.671973914702464e-6
allele num: 115314
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449254
  ensembl transcript: ENST00000551743
  gene symbol: PACS2
  hgvsc: ENST00000551743.1:c.348C>T
  hgvsp: ENST00000551743.1:c.348C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000551692
  gene symbol: PACS2
  hgvsc: ENST00000551692.1:n.2048C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393524
  ensembl transcript: ENST00000430725
  gene symbol: PACS2
  hgvsc: ENST00000430725.2:c.1581C>T
  hgvsp: ENST00000430725.2:c.1581C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000547903
  gene symbol: PACS2
  hgvsc: ENST00000547903.1:n.540C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000321834
  ensembl transcript: ENST00000325438
  gene symbol: PACS2
  hgvsc: ENST00000325438.8:c.1806C>T
  hgvsp: ENST00000325438.8:c.1806C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000399732
  ensembl transcript: ENST00000458164
  gene symbol: PACS2
  hgvsc: ENST00000458164.2:c.1818C>T
  hgvsp: ENST00000458164.2:c.1818C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393559
  ensembl transcript: ENST00000447393
  gene symbol: PACS2
  hgvsc: ENST00000447393.1:c.1818C>T
  hgvsp: ENST00000447393.1:c.1818C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449525
  ensembl transcript: ENST00000547217
  gene symbol: PACS2
  hgvsc: ENST00000547217.1:c.1716C>T
  hgvsp: ENST00000547217.1:c.1716C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23794
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1727
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40079
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13156
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2515
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48439
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asp606Asp
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: C
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

14-105850731-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105850731
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105850731
    reference: chr 14
allele count: 2
allele frequency: 1.73331253358293e-5
allele num: 115386
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000551692
  gene symbol: PACS2
  hgvsc: ENST00000551692.1:n.2052C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393524
  ensembl transcript: ENST00000430725
  gene symbol: PACS2
  hgvsc: ENST00000430725.2:c.1585C>T
  hgvsp: ENSP00000393524.2:p.Arg529Cys
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000321834
  ensembl transcript: ENST00000325438
  gene symbol: PACS2
  hgvsc: ENST00000325438.8:c.1810C>T
  hgvsp: ENSP00000321834.8:p.Arg604Cys
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449525
  ensembl transcript: ENST00000547217
  gene symbol: PACS2
  hgvsc: ENST00000547217.1:c.1720C>T
  hgvsp: ENSP00000449525.1:p.Arg574Cys
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393559
  ensembl transcript: ENST00000447393
  gene symbol: PACS2
  hgvsc: ENST00000447393.1:c.1822C>T
  hgvsp: ENSP00000393559.1:p.Arg608Cys
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000399732
  ensembl transcript: ENST00000458164
  gene symbol: PACS2
  hgvsc: ENST00000458164.2:c.1822C>T
  hgvsp: ENSP00000399732.2:p.Arg608Cys
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449254
  ensembl transcript: ENST00000551743
  gene symbol: PACS2
  hgvsc: ENST00000551743.1:c.352C>T
  hgvsp: ENSP00000449254.1:p.Arg118Cys
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000547903
  gene symbol: PACS2
  hgvsc: ENST00000547903.1:n.544C>T
  variant of: http://identifiers.org/hgnc/23794
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40039
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13245
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2462
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 742
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3033
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg608Cys
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

14-105850732-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105850732
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105850732
    reference: chr 14
allele count: 1
allele frequency: 8.662058451570432e-6
allele num: 115446
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393524
  ensembl transcript: ENST00000430725
  gene symbol: PACS2
  hgvsc: ENST00000430725.2:c.1586G>A
  hgvsp: ENSP00000393524.2:p.Arg529His
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393559
  ensembl transcript: ENST00000447393
  gene symbol: PACS2
  hgvsc: ENST00000447393.1:c.1823G>A
  hgvsp: ENSP00000393559.1:p.Arg608His
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000399732
  ensembl transcript: ENST00000458164
  gene symbol: PACS2
  hgvsc: ENST00000458164.2:c.1823G>A
  hgvsp: ENSP00000399732.2:p.Arg608His
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449525
  ensembl transcript: ENST00000547217
  gene symbol: PACS2
  hgvsc: ENST00000547217.1:c.1721G>A
  hgvsp: ENSP00000449525.1:p.Arg574His
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449254
  ensembl transcript: ENST00000551743
  gene symbol: PACS2
  hgvsc: ENST00000551743.1:c.353G>A
  hgvsp: ENSP00000449254.1:p.Arg118His
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000547903
  gene symbol: PACS2
  hgvsc: ENST00000547903.1:n.545G>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000551692
  gene symbol: PACS2
  hgvsc: ENST00000551692.1:n.2053G>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000321834
  ensembl transcript: ENST00000325438
  gene symbol: PACS2
  hgvsc: ENST00000325438.8:c.1811G>A
  hgvsp: ENSP00000321834.8:p.Arg604His
  variant of: http://identifiers.org/hgnc/23794
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40037
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13266
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2450
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 737
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Arg608His
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

14-105850736-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105850736
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105850736
    reference: chr 14
allele count: 485
allele frequency: 4.197753120185567e-3
allele num: 115538
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000321834
  ensembl transcript: ENST00000325438
  gene symbol: PACS2
  hgvsc: ENST00000325438.8:c.1815C>T
  hgvsp: ENST00000325438.8:c.1815C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449525
  ensembl transcript: ENST00000547217
  gene symbol: PACS2
  hgvsc: ENST00000547217.1:c.1725C>T
  hgvsp: ENST00000547217.1:c.1725C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000547903
  gene symbol: PACS2
  hgvsc: ENST00000547903.1:n.549C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000399732
  ensembl transcript: ENST00000458164
  gene symbol: PACS2
  hgvsc: ENST00000458164.2:c.1827C>T
  hgvsp: ENST00000458164.2:c.1827C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393524
  ensembl transcript: ENST00000430725
  gene symbol: PACS2
  hgvsc: ENST00000430725.2:c.1590C>T
  hgvsp: ENST00000430725.2:c.1590C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449254
  ensembl transcript: ENST00000551743
  gene symbol: PACS2
  hgvsc: ENST00000551743.1:c.357C>T
  hgvsp: ENST00000551743.1:c.357C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000551692
  gene symbol: PACS2
  hgvsc: ENST00000551692.1:n.2057C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393559
  ensembl transcript: ENST00000447393
  gene symbol: PACS2
  hgvsc: ENST00000447393.1:c.1827C>T
  hgvsp: ENST00000447393.1:c.1827C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23794
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 39829
  bin: 2.25e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 4.25e1
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 1.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 13276
  bin: 2.75e1
  variant carriers: 64
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 3.75e1
  variant carriers: 74
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 3.25e1
  variant carriers: 66
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 4.75e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 2410
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 1.75e1
  variant carriers: 37
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 5.25e1
  variant carriers: 1
hgvs: p.Tyr609Tyr
num of homozygotes: 4
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP

14-105850741-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105850741
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105850741
    reference: chr 14
allele count: 11
allele frequency: 9.533053697091552e-5
allele num: 115388
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000551692
  gene symbol: PACS2
  hgvsc: ENST00000551692.1:n.2062A>G
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000321834
  ensembl transcript: ENST00000325438
  gene symbol: PACS2
  hgvsc: ENST00000325438.8:c.1820A>G
  hgvsp: ENSP00000321834.8:p.Asn607Ser
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393559
  ensembl transcript: ENST00000447393
  gene symbol: PACS2
  hgvsc: ENST00000447393.1:c.1832A>G
  hgvsp: ENSP00000393559.1:p.Asn611Ser
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449525
  ensembl transcript: ENST00000547217
  gene symbol: PACS2
  hgvsc: ENST00000547217.1:c.1730A>G
  hgvsp: ENSP00000449525.1:p.Asn577Ser
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449254
  ensembl transcript: ENST00000551743
  gene symbol: PACS2
  hgvsc: ENST00000551743.1:c.362A>G
  hgvsp: ENSP00000449254.1:p.Asn121Ser
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393524
  ensembl transcript: ENST00000430725
  gene symbol: PACS2
  hgvsc: ENST00000430725.2:c.1595A>G
  hgvsp: ENSP00000393524.2:p.Asn532Ser
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000547903
  gene symbol: PACS2
  hgvsc: ENST00000547903.1:n.554A>G
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000399732
  ensembl transcript: ENST00000458164
  gene symbol: PACS2
  hgvsc: ENST00000458164.2:c.1832A>G
  hgvsp: ENSP00000399732.2:p.Asn611Ser
  variant of: http://identifiers.org/hgnc/23794
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13541
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2494
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1747
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39606
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asn611Ser
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/14-105850742-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105850742
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105850742
    reference: chr 14
allele count: 1
allele frequency: 8.671973914702464e-6
allele num: 115314
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000399732
  ensembl transcript: ENST00000458164
  gene symbol: PACS2
  hgvsc: ENST00000458164.2:c.1833C>A
  hgvsp: ENSP00000399732.2:p.Asn611Lys
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000547903
  gene symbol: PACS2
  hgvsc: ENST00000547903.1:n.555C>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393559
  ensembl transcript: ENST00000447393
  gene symbol: PACS2
  hgvsc: ENST00000447393.1:c.1833C>A
  hgvsp: ENSP00000393559.1:p.Asn611Lys
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000551692
  gene symbol: PACS2
  hgvsc: ENST00000551692.1:n.2063C>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393524
  ensembl transcript: ENST00000430725
  gene symbol: PACS2
  hgvsc: ENST00000430725.2:c.1596C>A
  hgvsp: ENSP00000393524.2:p.Asn532Lys
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449254
  ensembl transcript: ENST00000551743
  gene symbol: PACS2
  hgvsc: ENST00000551743.1:c.363C>A
  hgvsp: ENSP00000449254.1:p.Asn121Lys
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000321834
  ensembl transcript: ENST00000325438
  gene symbol: PACS2
  hgvsc: ENST00000325438.8:c.1821C>A
  hgvsp: ENSP00000321834.8:p.Asn607Lys
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449525
  ensembl transcript: ENST00000547217
  gene symbol: PACS2
  hgvsc: ENST00000547217.1:c.1731C>A
  hgvsp: ENSP00000449525.1:p.Asn577Lys
  variant of: http://identifiers.org/hgnc/23794
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2524
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39515
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13513
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3938
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asn611Lys
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP

14-105850742-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105850742
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105850742
    reference: chr 14
allele count: 3
allele frequency: 2.601592174410739e-5
allele num: 115314
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000399732
  ensembl transcript: ENST00000458164
  gene symbol: PACS2
  hgvsc: ENST00000458164.2:c.1833C>T
  hgvsp: ENST00000458164.2:c.1833C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449525
  ensembl transcript: ENST00000547217
  gene symbol: PACS2
  hgvsc: ENST00000547217.1:c.1731C>T
  hgvsp: ENST00000547217.1:c.1731C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393524
  ensembl transcript: ENST00000430725
  gene symbol: PACS2
  hgvsc: ENST00000430725.2:c.1596C>T
  hgvsp: ENST00000430725.2:c.1596C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000551692
  gene symbol: PACS2
  hgvsc: ENST00000551692.1:n.2063C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449254
  ensembl transcript: ENST00000551743
  gene symbol: PACS2
  hgvsc: ENST00000551743.1:c.363C>T
  hgvsp: ENST00000551743.1:c.363C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000547903
  gene symbol: PACS2
  hgvsc: ENST00000547903.1:n.555C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393559
  ensembl transcript: ENST00000447393
  gene symbol: PACS2
  hgvsc: ENST00000447393.1:c.1833C>T
  hgvsp: ENST00000447393.1:c.1833C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000321834
  ensembl transcript: ENST00000325438
  gene symbol: PACS2
  hgvsc: ENST00000325438.8:c.1821C>T
  hgvsp: ENST00000325438.8:c.1821C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23794
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39515
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2524
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13513
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3357
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48653
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 725
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asn611Asn
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD

14-105850752-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105850752
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105850752
    reference: chr 14
allele count: 1
allele frequency: 8.731184297838158e-6
allele num: 114532
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393524
  ensembl transcript: ENST00000430725
  gene symbol: PACS2
  hgvsc: ENST00000430725.2:c.1606G>A
  hgvsp: ENSP00000393524.2:p.Asp536Asn
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449254
  ensembl transcript: ENST00000551743
  gene symbol: PACS2
  hgvsc: ENST00000551743.1:c.373G>A
  hgvsp: ENSP00000449254.1:p.Asp125Asn
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000321834
  ensembl transcript: ENST00000325438
  gene symbol: PACS2
  hgvsc: ENST00000325438.8:c.1831G>A
  hgvsp: ENSP00000321834.8:p.Asp611Asn
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000551692
  gene symbol: PACS2
  hgvsc: ENST00000551692.1:n.2073G>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449525
  ensembl transcript: ENST00000547217
  gene symbol: PACS2
  hgvsc: ENST00000547217.1:c.1741G>A
  hgvsp: ENSP00000449525.1:p.Asp581Asn
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000399732
  ensembl transcript: ENST00000458164
  gene symbol: PACS2
  hgvsc: ENST00000458164.2:c.1843G>A
  hgvsp: ENSP00000399732.2:p.Asp615Asn
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000547903
  gene symbol: PACS2
  hgvsc: ENST00000547903.1:n.565G>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393559
  ensembl transcript: ENST00000447393
  gene symbol: PACS2
  hgvsc: ENST00000447393.1:c.1843G>A
  hgvsp: ENSP00000393559.1:p.Asp615Asn
  variant of: http://identifiers.org/hgnc/23794
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13296
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2886
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38515
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asp615Asn
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

14-105850754-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105850754
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105850754
    reference: chr 14
allele count: 6
allele frequency: 5.244480184605702e-5
allele num: 114406
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449254
  ensembl transcript: ENST00000551743
  gene symbol: PACS2
  hgvsc: ENST00000551743.1:c.375C>T
  hgvsp: ENST00000551743.1:c.375C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393524
  ensembl transcript: ENST00000430725
  gene symbol: PACS2
  hgvsc: ENST00000430725.2:c.1608C>T
  hgvsp: ENST00000430725.2:c.1608C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000321834
  ensembl transcript: ENST00000325438
  gene symbol: PACS2
  hgvsc: ENST00000325438.8:c.1833C>T
  hgvsp: ENST00000325438.8:c.1833C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449525
  ensembl transcript: ENST00000547217
  gene symbol: PACS2
  hgvsc: ENST00000547217.1:c.1743C>T
  hgvsp: ENST00000547217.1:c.1743C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000547903
  gene symbol: PACS2
  hgvsc: ENST00000547903.1:n.567C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000399732
  ensembl transcript: ENST00000458164
  gene symbol: PACS2
  hgvsc: ENST00000458164.2:c.1845C>T
  hgvsp: ENST00000458164.2:c.1845C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000551692
  gene symbol: PACS2
  hgvsc: ENST00000551692.1:n.2075C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393559
  ensembl transcript: ENST00000447393
  gene symbol: PACS2
  hgvsc: ENST00000447393.1:c.1845C>T
  hgvsp: ENST00000447393.1:c.1845C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23794
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2934
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38374
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2140
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13291
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46976
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 656
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asp615Asp
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS

14-105850758-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105850758
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105850758
    reference: chr 14
allele count: 1
allele frequency: 8.767776667192733e-6
allele num: 114054
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449525
  ensembl transcript: ENST00000547217
  gene symbol: PACS2
  hgvsc: ENST00000547217.1:c.1747G>T
  hgvsp: ENSP00000449525.1:p.Ala583Ser
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000551692
  gene symbol: PACS2
  hgvsc: ENST00000551692.1:n.2079G>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393524
  ensembl transcript: ENST00000430725
  gene symbol: PACS2
  hgvsc: ENST00000430725.2:c.1612G>T
  hgvsp: ENSP00000393524.2:p.Ala538Ser
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000399732
  ensembl transcript: ENST00000458164
  gene symbol: PACS2
  hgvsc: ENST00000458164.2:c.1849G>T
  hgvsp: ENSP00000399732.2:p.Ala617Ser
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393559
  ensembl transcript: ENST00000447393
  gene symbol: PACS2
  hgvsc: ENST00000447393.1:c.1849G>T
  hgvsp: ENSP00000393559.1:p.Ala617Ser
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000547903
  gene symbol: PACS2
  hgvsc: ENST00000547903.1:n.571G>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000321834
  ensembl transcript: ENST00000325438
  gene symbol: PACS2
  hgvsc: ENST00000325438.8:c.1837G>T
  hgvsp: ENSP00000321834.8:p.Ala613Ser
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449254
  ensembl transcript: ENST00000551743
  gene symbol: PACS2
  hgvsc: ENST00000551743.1:c.379G>T
  hgvsp: ENSP00000449254.1:p.Ala127Ser
  variant of: http://identifiers.org/hgnc/23794
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13308
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2417
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3069
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1740
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37910
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4592
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3763
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala617Ser
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

14-105850759-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105850759
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105850759
    reference: chr 14
allele count: 16
allele frequency: 1.407360495390894e-4
allele num: 113688
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393559
  ensembl transcript: ENST00000447393
  gene symbol: PACS2
  hgvsc: ENST00000447393.1:c.1850C>T
  hgvsp: ENSP00000393559.1:p.Ala617Val
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393524
  ensembl transcript: ENST00000430725
  gene symbol: PACS2
  hgvsc: ENST00000430725.2:c.1613C>T
  hgvsp: ENSP00000393524.2:p.Ala538Val
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449525
  ensembl transcript: ENST00000547217
  gene symbol: PACS2
  hgvsc: ENST00000547217.1:c.1748C>T
  hgvsp: ENSP00000449525.1:p.Ala583Val
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449254
  ensembl transcript: ENST00000551743
  gene symbol: PACS2
  hgvsc: ENST00000551743.1:c.380C>T
  hgvsp: ENSP00000449254.1:p.Ala127Val
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000321834
  ensembl transcript: ENST00000325438
  gene symbol: PACS2
  hgvsc: ENST00000325438.8:c.1838C>T
  hgvsp: ENSP00000321834.8:p.Ala613Val
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000399732
  ensembl transcript: ENST00000458164
  gene symbol: PACS2
  hgvsc: ENST00000458164.2:c.1850C>T
  hgvsp: ENSP00000399732.2:p.Ala617Val
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000551692
  gene symbol: PACS2
  hgvsc: ENST00000551692.1:n.2080C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000547903
  gene symbol: PACS2
  hgvsc: ENST00000547903.1:n.572C>T
  variant of: http://identifiers.org/hgnc/23794
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1760
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37378
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3239
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2708
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13264
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 974
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 9.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala617Val
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

14-105850765-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105850765
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105850765
    reference: chr 14
allele count: 1
allele frequency: 8.814611099358297e-6
allele num: 113448
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393559
  ensembl transcript: ENST00000447393
  gene symbol: PACS2
  hgvsc: ENST00000447393.1:c.1856G>A
  hgvsp: ENSP00000393559.1:p.Arg619Lys
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000551692
  gene symbol: PACS2
  hgvsc: ENST00000551692.1:n.2086G>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000321834
  ensembl transcript: ENST00000325438
  gene symbol: PACS2
  hgvsc: ENST00000325438.8:c.1844G>A
  hgvsp: ENSP00000321834.8:p.Arg615Lys
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449525
  ensembl transcript: ENST00000547217
  gene symbol: PACS2
  hgvsc: ENST00000547217.1:c.1754G>A
  hgvsp: ENSP00000449525.1:p.Arg585Lys
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000547903
  gene symbol: PACS2
  hgvsc: ENST00000547903.1:n.578G>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000399732
  ensembl transcript: ENST00000458164
  gene symbol: PACS2
  hgvsc: ENST00000458164.2:c.1856G>A
  hgvsp: ENSP00000399732.2:p.Arg619Lys
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393524
  ensembl transcript: ENST00000430725
  gene symbol: PACS2
  hgvsc: ENST00000430725.2:c.1619G>A
  hgvsp: ENSP00000393524.2:p.Arg540Lys
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449254
  ensembl transcript: ENST00000551743
  gene symbol: PACS2
  hgvsc: ENST00000551743.1:c.386G>A
  hgvsp: ENSP00000449254.1:p.Arg129Lys
  variant of: http://identifiers.org/hgnc/23794
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37362
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2937
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3372
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13172
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46451
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg619Lys
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

14-105850766-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105850766
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105850766
    reference: chr 14
allele count: 1
allele frequency: 8.836732529779788e-6
allele num: 113164
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449254
  ensembl transcript: ENST00000551743
  gene symbol: PACS2
  hgvsc: ENST00000551743.1:c.387A>G
  hgvsp: ENST00000551743.1:c.387A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000551692
  gene symbol: PACS2
  hgvsc: ENST00000551692.1:n.2087A>G
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000547903
  gene symbol: PACS2
  hgvsc: ENST00000547903.1:n.579A>G
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393524
  ensembl transcript: ENST00000430725
  gene symbol: PACS2
  hgvsc: ENST00000430725.2:c.1620A>G
  hgvsp: ENST00000430725.2:c.1620A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393559
  ensembl transcript: ENST00000447393
  gene symbol: PACS2
  hgvsc: ENST00000447393.1:c.1857A>G
  hgvsp: ENST00000447393.1:c.1857A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449525
  ensembl transcript: ENST00000547217
  gene symbol: PACS2
  hgvsc: ENST00000547217.1:c.1755A>G
  hgvsp: ENST00000547217.1:c.1755A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000399732
  ensembl transcript: ENST00000458164
  gene symbol: PACS2
  hgvsc: ENST00000458164.2:c.1857A>G
  hgvsp: ENST00000458164.2:c.1857A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000321834
  ensembl transcript: ENST00000325438
  gene symbol: PACS2
  hgvsc: ENST00000325438.8:c.1845A>G
  hgvsp: ENST00000325438.8:c.1845A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23794
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13076
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3179
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3513
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1657
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37023
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5547
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45706
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg619Arg
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: FS

14-105850767-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105850767
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105850767
    reference: chr 14
allele count: 1
allele frequency: 8.836888708223609e-6
allele num: 113162
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000547903
  gene symbol: PACS2
  hgvsc: ENST00000547903.1:n.580G>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000399732
  ensembl transcript: ENST00000458164
  gene symbol: PACS2
  hgvsc: ENST00000458164.2:c.1858G>T
  hgvsp: ENSP00000399732.2:p.Asp620Tyr
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449254
  ensembl transcript: ENST00000551743
  gene symbol: PACS2
  hgvsc: ENST00000551743.1:c.388G>T
  hgvsp: ENSP00000449254.1:p.Asp130Tyr
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000551692
  gene symbol: PACS2
  hgvsc: ENST00000551692.1:n.2088G>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000321834
  ensembl transcript: ENST00000325438
  gene symbol: PACS2
  hgvsc: ENST00000325438.8:c.1846G>T
  hgvsp: ENSP00000321834.8:p.Asp616Tyr
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393559
  ensembl transcript: ENST00000447393
  gene symbol: PACS2
  hgvsc: ENST00000447393.1:c.1858G>T
  hgvsp: ENSP00000393559.1:p.Asp620Tyr
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393524
  ensembl transcript: ENST00000430725
  gene symbol: PACS2
  hgvsc: ENST00000430725.2:c.1621G>T
  hgvsp: ENSP00000393524.2:p.Asp541Tyr
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449525
  ensembl transcript: ENST00000547217
  gene symbol: PACS2
  hgvsc: ENST00000547217.1:c.1756G>T
  hgvsp: ENSP00000449525.1:p.Asp586Tyr
  variant of: http://identifiers.org/hgnc/23794
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3514
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3188
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13089
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37012
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1661
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3517
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5557
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asp620Tyr
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
population: African
reference allele: G
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

14-105850773-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105850773
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105850773
    reference: chr 14
allele count: 1
allele frequency: 8.960091751339533e-6
allele num: 111606
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000547903
  gene symbol: PACS2
  hgvsc: ENST00000547903.1:n.586T>C
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393524
  ensembl transcript: ENST00000430725
  gene symbol: PACS2
  hgvsc: ENST00000430725.2:c.1627T>C
  hgvsp: ENSP00000393524.2:p.Phe543Leu
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449525
  ensembl transcript: ENST00000547217
  gene symbol: PACS2
  hgvsc: ENST00000547217.1:c.1762T>C
  hgvsp: ENSP00000449525.1:p.Phe588Leu
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449254
  ensembl transcript: ENST00000551743
  gene symbol: PACS2
  hgvsc: ENST00000551743.1:c.394T>C
  hgvsp: ENSP00000449254.1:p.Phe132Leu
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393559
  ensembl transcript: ENST00000447393
  gene symbol: PACS2
  hgvsc: ENST00000447393.1:c.1864T>C
  hgvsp: ENSP00000393559.1:p.Phe622Leu
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000399732
  ensembl transcript: ENST00000458164
  gene symbol: PACS2
  hgvsc: ENST00000458164.2:c.1864T>C
  hgvsp: ENSP00000399732.2:p.Phe622Leu
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000551692
  gene symbol: PACS2
  hgvsc: ENST00000551692.1:n.2094T>C
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000321834
  ensembl transcript: ENST00000325438
  gene symbol: PACS2
  hgvsc: ENST00000325438.8:c.1852T>C
  hgvsp: ENSP00000321834.8:p.Phe618Leu
  variant of: http://identifiers.org/hgnc/23794
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35228
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4233
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4269
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12876
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7043
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43659
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3378
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Phe622Leu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: DP

14-105850776-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105850776
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105850776
    reference: chr 14
allele count: 3
allele frequency: 2.704603234705469e-5
allele num: 110922
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449525
  ensembl transcript: ENST00000547217
  gene symbol: PACS2
  hgvsc: ENST00000547217.1:c.1765A>G
  hgvsp: ENSP00000449525.1:p.Asn589Asp
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393559
  ensembl transcript: ENST00000447393
  gene symbol: PACS2
  hgvsc: ENST00000447393.1:c.1867A>G
  hgvsp: ENSP00000393559.1:p.Asn623Asp
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000321834
  ensembl transcript: ENST00000325438
  gene symbol: PACS2
  hgvsc: ENST00000325438.8:c.1855A>G
  hgvsp: ENSP00000321834.8:p.Asn619Asp
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000551692
  gene symbol: PACS2
  hgvsc: ENST00000551692.1:n.2097A>G
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393524
  ensembl transcript: ENST00000430725
  gene symbol: PACS2
  hgvsc: ENST00000430725.2:c.1630A>G
  hgvsp: ENSP00000393524.2:p.Asn544Asp
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000399732
  ensembl transcript: ENST00000458164
  gene symbol: PACS2
  hgvsc: ENST00000458164.2:c.1867A>G
  hgvsp: ENSP00000399732.2:p.Asn623Asp
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449254
  ensembl transcript: ENST00000551743
  gene symbol: PACS2
  hgvsc: ENST00000551743.1:c.397A>G
  hgvsp: ENSP00000449254.1:p.Asn133Asp
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000547903
  gene symbol: PACS2
  hgvsc: ENST00000547903.1:n.589A>G
  variant of: http://identifiers.org/hgnc/23794
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4771
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4554
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34373
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12776
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 843
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42493
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1015
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asn623Asp
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD

14-105850781-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105850781
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105850781
    reference: chr 14
allele count: 1
allele frequency: 9.128085292828975e-6
allele num: 109552
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393524
  ensembl transcript: ENST00000430725
  gene symbol: PACS2
  hgvsc: ENST00000430725.2:c.1635G>A
  hgvsp: ENST00000430725.2:c.1635G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000321834
  ensembl transcript: ENST00000325438
  gene symbol: PACS2
  hgvsc: ENST00000325438.8:c.1860G>A
  hgvsp: ENST00000325438.8:c.1860G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000551692
  gene symbol: PACS2
  hgvsc: ENST00000551692.1:n.2102G>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393559
  ensembl transcript: ENST00000447393
  gene symbol: PACS2
  hgvsc: ENST00000447393.1:c.1872G>A
  hgvsp: ENST00000447393.1:c.1872G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000547903
  gene symbol: PACS2
  hgvsc: ENST00000547903.1:n.594G>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449525
  ensembl transcript: ENST00000547217
  gene symbol: PACS2
  hgvsc: ENST00000547217.1:c.1770G>A
  hgvsp: ENST00000547217.1:c.1770G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449254
  ensembl transcript: ENST00000551743
  gene symbol: PACS2
  hgvsc: ENST00000551743.1:c.402G>A
  hgvsp: ENST00000551743.1:c.402G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000399732
  ensembl transcript: ENST00000458164
  gene symbol: PACS2
  hgvsc: ENST00000458164.2:c.1872G>A
  hgvsp: ENST00000458164.2:c.1872G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23794
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5192
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1542
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5773
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33058
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12261
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1202
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Lys624Lys
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ

14-105850782-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105850782
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105850782
    reference: chr 14
allele count: 1
allele frequency: 9.152145262849612e-6
allele num: 109264
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393524
  ensembl transcript: ENST00000430725
  gene symbol: PACS2
  hgvsc: ENST00000430725.2:c.1636C>T
  hgvsp: ENST00000430725.2:c.1636C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000551692
  gene symbol: PACS2
  hgvsc: ENST00000551692.1:n.2103C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000399732
  ensembl transcript: ENST00000458164
  gene symbol: PACS2
  hgvsc: ENST00000458164.2:c.1873C>T
  hgvsp: ENST00000458164.2:c.1873C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000547903
  gene symbol: PACS2
  hgvsc: ENST00000547903.1:n.595C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393559
  ensembl transcript: ENST00000447393
  gene symbol: PACS2
  hgvsc: ENST00000447393.1:c.1873C>T
  hgvsp: ENST00000447393.1:c.1873C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449525
  ensembl transcript: ENST00000547217
  gene symbol: PACS2
  hgvsc: ENST00000547217.1:c.1771C>T
  hgvsp: ENST00000547217.1:c.1771C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000321834
  ensembl transcript: ENST00000325438
  gene symbol: PACS2
  hgvsc: ENST00000325438.8:c.1861C>T
  hgvsp: ENST00000325438.8:c.1861C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449254
  ensembl transcript: ENST00000551743
  gene symbol: PACS2
  hgvsc: ENST00000551743.1:c.403C>T
  hgvsp: ENST00000551743.1:c.403C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23794
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32722
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5995
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1594
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5306
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12219
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9292
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3240
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1248
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu625Leu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQRankSum

14-105850789-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105850789
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105850789
    reference: chr 14
allele count: 1
allele frequency: 9.444654325651682e-6
allele num: 105880
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393524
  ensembl transcript: ENST00000430725
  gene symbol: PACS2
  hgvsc: ENST00000430725.2:c.1643C>T
  hgvsp: ENSP00000393524.2:p.Ala548Val
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000321834
  ensembl transcript: ENST00000325438
  gene symbol: PACS2
  hgvsc: ENST00000325438.8:c.1868C>T
  hgvsp: ENSP00000321834.8:p.Ala623Val
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449254
  ensembl transcript: ENST00000551743
  gene symbol: PACS2
  hgvsc: ENST00000551743.1:c.410C>T
  hgvsp: ENSP00000449254.1:p.Ala137Val
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000547903
  gene symbol: PACS2
  hgvsc: ENST00000547903.1:n.602C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449525
  ensembl transcript: ENST00000547217
  gene symbol: PACS2
  hgvsc: ENST00000547217.1:c.1778C>T
  hgvsp: ENSP00000449525.1:p.Ala593Val
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000399732
  ensembl transcript: ENST00000458164
  gene symbol: PACS2
  hgvsc: ENST00000458164.2:c.1880C>T
  hgvsp: ENSP00000399732.2:p.Ala627Val
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393559
  ensembl transcript: ENST00000447393
  gene symbol: PACS2
  hgvsc: ENST00000447393.1:c.1880C>T
  hgvsp: ENSP00000393559.1:p.Ala627Val
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000551692
  gene symbol: PACS2
  hgvsc: ENST00000551692.1:n.2110C>T
  variant of: http://identifiers.org/hgnc/23794
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28465
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2303
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8899
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6816
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11234
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1760
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala627Val
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff

14-105850798-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105850798
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105850798
    reference: chr 14
allele count: 35
allele frequency: 3.470913742835043e-4
allele num: 100838
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393559
  ensembl transcript: ENST00000447393
  gene symbol: PACS2
  hgvsc: ENST00000447393.1:c.1889C>T
  hgvsp: ENSP00000393559.1:p.Ala630Val
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449254
  ensembl transcript: ENST00000551743
  gene symbol: PACS2
  hgvsc: ENST00000551743.1:c.419C>T
  hgvsp: ENSP00000449254.1:p.Ala140Val
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449525
  ensembl transcript: ENST00000547217
  gene symbol: PACS2
  hgvsc: ENST00000547217.1:c.1787C>T
  hgvsp: ENSP00000449525.1:p.Ala596Val
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000399732
  ensembl transcript: ENST00000458164
  gene symbol: PACS2
  hgvsc: ENST00000458164.2:c.1889C>T
  hgvsp: ENSP00000399732.2:p.Ala630Val
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000551692
  gene symbol: PACS2
  hgvsc: ENST00000551692.1:n.2119C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393524
  ensembl transcript: ENST00000430725
  gene symbol: PACS2
  hgvsc: ENST00000430725.2:c.1652C>T
  hgvsp: ENSP00000393524.2:p.Ala551Val
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000321834
  ensembl transcript: ENST00000325438
  gene symbol: PACS2
  hgvsc: ENST00000325438.8:c.1877C>T
  hgvsp: ENSP00000321834.8:p.Ala626Val
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000547903
  gene symbol: PACS2
  hgvsc: ENST00000547903.1:n.611C>T
  variant of: http://identifiers.org/hgnc/23794
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9652
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 13471
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22276
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 8777
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3313
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17823
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 695
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala630Val
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum

14-105850799-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105850799
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105850799
    reference: chr 14
allele count: 3
allele frequency: 2.974302030456853e-5
allele num: 100864
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449525
  ensembl transcript: ENST00000547217
  gene symbol: PACS2
  hgvsc: ENST00000547217.1:c.1788G>A
  hgvsp: ENST00000547217.1:c.1788G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449254
  ensembl transcript: ENST00000551743
  gene symbol: PACS2
  hgvsc: ENST00000551743.1:c.420G>A
  hgvsp: ENST00000551743.1:c.420G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393524
  ensembl transcript: ENST00000430725
  gene symbol: PACS2
  hgvsc: ENST00000430725.2:c.1653G>A
  hgvsp: ENST00000430725.2:c.1653G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000399732
  ensembl transcript: ENST00000458164
  gene symbol: PACS2
  hgvsc: ENST00000458164.2:c.1890G>A
  hgvsp: ENST00000458164.2:c.1890G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000547903
  gene symbol: PACS2
  hgvsc: ENST00000547903.1:n.612G>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000321834
  ensembl transcript: ENST00000325438
  gene symbol: PACS2
  hgvsc: ENST00000325438.8:c.1878G>A
  hgvsp: ENST00000325438.8:c.1878G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000551692
  gene symbol: PACS2
  hgvsc: ENST00000551692.1:n.2120G>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393559
  ensembl transcript: ENST00000447393
  gene symbol: PACS2
  hgvsc: ENST00000447393.1:c.1890G>A
  hgvsp: ENST00000447393.1:c.1890G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23794
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8889
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13618
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9712
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3148
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22225
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2606
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2406
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 975
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 1.75e1
  variant carriers: 0
hgvs: c.1890G>A
num of homozygotes: 0
population: African
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD

14-105850807-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105850807
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105850807
    reference: chr 14
allele count: 1
allele frequency: 1.054830066876226e-5
allele num: 94802
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000399732
  ensembl transcript: ENST00000458164
  gene symbol: PACS2
  hgvsc: ENST00000458164.2:c.1891+7C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000551692
  gene symbol: PACS2
  hgvsc: ENST00000551692.1:n.2121+7C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393524
  ensembl transcript: ENST00000430725
  gene symbol: PACS2
  hgvsc: ENST00000430725.2:c.1654+7C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449254
  ensembl transcript: ENST00000551743
  gene symbol: PACS2
  hgvsc: ENST00000551743.1:c.421+7C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000321834
  ensembl transcript: ENST00000325438
  gene symbol: PACS2
  hgvsc: ENST00000325438.8:c.1879+7C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000547903
  gene symbol: PACS2
  hgvsc: ENST00000547903.1:n.613+7C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393559
  ensembl transcript: ENST00000447393
  gene symbol: PACS2
  hgvsc: ENST00000447393.1:c.1891+7C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449525
  ensembl transcript: ENST00000547217
  gene symbol: PACS2
  hgvsc: ENST00000547217.1:c.1789+7C>T
  variant of: http://identifiers.org/hgnc/23794
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11345
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18988
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7258
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15390
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4357
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23553
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1457
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1768
  bin: 3.75e1
  variant carriers: 0
hgvs: c.1891+7C>T
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD

14-105850809-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105850809
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105850809
    reference: chr 14
allele count: 11
allele frequency: 1.177074861961221e-4
allele num: 93452
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000399732
  ensembl transcript: ENST00000458164
  gene symbol: PACS2
  hgvsc: ENST00000458164.2:c.1891+9C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393524
  ensembl transcript: ENST00000430725
  gene symbol: PACS2
  hgvsc: ENST00000430725.2:c.1654+9C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000321834
  ensembl transcript: ENST00000325438
  gene symbol: PACS2
  hgvsc: ENST00000325438.8:c.1879+9C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393559
  ensembl transcript: ENST00000447393
  gene symbol: PACS2
  hgvsc: ENST00000447393.1:c.1891+9C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449525
  ensembl transcript: ENST00000547217
  gene symbol: PACS2
  hgvsc: ENST00000547217.1:c.1789+9C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000547903
  gene symbol: PACS2
  hgvsc: ENST00000547903.1:n.613+9C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000551692
  gene symbol: PACS2
  hgvsc: ENST00000551692.1:n.2121+9C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449254
  ensembl transcript: ENST00000551743
  gene symbol: PACS2
  hgvsc: ENST00000551743.1:c.421+9C>T
  variant of: http://identifiers.org/hgnc/23794
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6874
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19605
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4423
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1448
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14593
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11751
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 899
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24173
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 606
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 701
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3903
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum

14-105850810-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105850810
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105850810
    reference: chr 14
allele count: 2
allele frequency: 2.147858584990764e-5
allele num: 93116
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000551692
  gene symbol: PACS2
  hgvsc: ENST00000551692.1:n.2121+10G>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000547903
  gene symbol: PACS2
  hgvsc: ENST00000547903.1:n.613+10G>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449525
  ensembl transcript: ENST00000547217
  gene symbol: PACS2
  hgvsc: ENST00000547217.1:c.1789+10G>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393524
  ensembl transcript: ENST00000430725
  gene symbol: PACS2
  hgvsc: ENST00000430725.2:c.1654+10G>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449254
  ensembl transcript: ENST00000551743
  gene symbol: PACS2
  hgvsc: ENST00000551743.1:c.421+10G>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000399732
  ensembl transcript: ENST00000458164
  gene symbol: PACS2
  hgvsc: ENST00000458164.2:c.1891+10G>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393559
  ensembl transcript: ENST00000447393
  gene symbol: PACS2
  hgvsc: ENST00000447393.1:c.1891+10G>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000321834
  ensembl transcript: ENST00000325438
  gene symbol: PACS2
  hgvsc: ENST00000325438.8:c.1879+10G>A
  variant of: http://identifiers.org/hgnc/23794
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19652
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14549
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6906
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11901
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4263
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3824
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1663
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 742
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1748
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

14-105850813-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105850813
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105850813
    reference: chr 14
allele count: 9
allele frequency: 9.830049368692385e-5
allele num: 91556
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000399732
  ensembl transcript: ENST00000458164
  gene symbol: PACS2
  hgvsc: ENST00000458164.2:c.1891+13C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449254
  ensembl transcript: ENST00000551743
  gene symbol: PACS2
  hgvsc: ENST00000551743.1:c.421+13C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000321834
  ensembl transcript: ENST00000325438
  gene symbol: PACS2
  hgvsc: ENST00000325438.8:c.1879+13C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000551692
  gene symbol: PACS2
  hgvsc: ENST00000551692.1:n.2121+13C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000547903
  gene symbol: PACS2
  hgvsc: ENST00000547903.1:n.613+13C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393524
  ensembl transcript: ENST00000430725
  gene symbol: PACS2
  hgvsc: ENST00000430725.2:c.1654+13C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449525
  ensembl transcript: ENST00000547217
  gene symbol: PACS2
  hgvsc: ENST00000547217.1:c.1789+13C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393559
  ensembl transcript: ENST00000447393
  gene symbol: PACS2
  hgvsc: ENST00000447393.1:c.1891+13C>T
  variant of: http://identifiers.org/hgnc/23794
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20747
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12400
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13428
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4325
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6209
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4039
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 668
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS

14-105850814-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105850814
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105850814
    reference: chr 14
allele count: 10
allele frequency: 1.099940603207427e-4
allele num: 90914
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000547903
  gene symbol: PACS2
  hgvsc: ENST00000547903.1:n.613+14G>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000321834
  ensembl transcript: ENST00000325438
  gene symbol: PACS2
  hgvsc: ENST00000325438.8:c.1879+14G>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449525
  ensembl transcript: ENST00000547217
  gene symbol: PACS2
  hgvsc: ENST00000547217.1:c.1789+14G>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393559
  ensembl transcript: ENST00000447393
  gene symbol: PACS2
  hgvsc: ENST00000447393.1:c.1891+14G>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000551692
  gene symbol: PACS2
  hgvsc: ENST00000551692.1:n.2121+14G>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393524
  ensembl transcript: ENST00000430725
  gene symbol: PACS2
  hgvsc: ENST00000430725.2:c.1654+14G>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449254
  ensembl transcript: ENST00000551743
  gene symbol: PACS2
  hgvsc: ENST00000551743.1:c.421+14G>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000399732
  ensembl transcript: ENST00000458164
  gene symbol: PACS2
  hgvsc: ENST00000458164.2:c.1891+14G>A
  variant of: http://identifiers.org/hgnc/23794
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5896
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12663
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12689
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21419
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4398
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2036
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1849
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 735
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

14-105850815-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105850815
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105850815
    reference: chr 14
allele count: 4
allele frequency: 4.413841807909605e-5
allele num: 90624
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449254
  ensembl transcript: ENST00000551743
  gene symbol: PACS2
  hgvsc: ENST00000551743.1:c.421+15C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000321834
  ensembl transcript: ENST00000325438
  gene symbol: PACS2
  hgvsc: ENST00000325438.8:c.1879+15C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393559
  ensembl transcript: ENST00000447393
  gene symbol: PACS2
  hgvsc: ENST00000447393.1:c.1891+15C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000399732
  ensembl transcript: ENST00000458164
  gene symbol: PACS2
  hgvsc: ENST00000458164.2:c.1891+15C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000547903
  gene symbol: PACS2
  hgvsc: ENST00000547903.1:n.613+15C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000551692
  gene symbol: PACS2
  hgvsc: ENST00000551692.1:n.2121+15C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393524
  ensembl transcript: ENST00000430725
  gene symbol: PACS2
  hgvsc: ENST00000430725.2:c.1654+15C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449525
  ensembl transcript: ENST00000547217
  gene symbol: PACS2
  hgvsc: ENST00000547217.1:c.1789+15C>T
  variant of: http://identifiers.org/hgnc/23794
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1859
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21741
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12327
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12796
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4358
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5761
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1839
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15457
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: QD
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

14-105850816-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105850816
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105850816
    reference: chr 14
allele count: 6
allele frequency: 6.658380681818181e-5
allele num: 90112
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449525
  ensembl transcript: ENST00000547217
  gene symbol: PACS2
  hgvsc: ENST00000547217.1:c.1789+16G>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393524
  ensembl transcript: ENST00000430725
  gene symbol: PACS2
  hgvsc: ENST00000430725.2:c.1654+16G>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000551692
  gene symbol: PACS2
  hgvsc: ENST00000551692.1:n.2121+16G>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000321834
  ensembl transcript: ENST00000325438
  gene symbol: PACS2
  hgvsc: ENST00000325438.8:c.1879+16G>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393559
  ensembl transcript: ENST00000447393
  gene symbol: PACS2
  hgvsc: ENST00000447393.1:c.1891+16G>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000547903
  gene symbol: PACS2
  hgvsc: ENST00000547903.1:n.613+16G>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449254
  ensembl transcript: ENST00000551743
  gene symbol: PACS2
  hgvsc: ENST00000551743.1:c.421+16G>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000399732
  ensembl transcript: ENST00000458164
  gene symbol: PACS2
  hgvsc: ENST00000458164.2:c.1891+16G>A
  variant of: http://identifiers.org/hgnc/23794
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5794
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4254
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12271
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1869
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21786
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12883
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2166
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15890
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

14-105850828-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105850828
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105850828
    reference: chr 14
allele count: 120
allele frequency: 1.471742543171115e-3
allele num: 81536
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449525
  ensembl transcript: ENST00000547217
  gene symbol: PACS2
  hgvsc: ENST00000547217.1:c.1789+28C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000399732
  ensembl transcript: ENST00000458164
  gene symbol: PACS2
  hgvsc: ENST00000458164.2:c.1891+28C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393559
  ensembl transcript: ENST00000447393
  gene symbol: PACS2
  hgvsc: ENST00000447393.1:c.1891+28C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000547903
  gene symbol: PACS2
  hgvsc: ENST00000547903.1:n.613+28C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393524
  ensembl transcript: ENST00000430725
  gene symbol: PACS2
  hgvsc: ENST00000430725.2:c.1654+28C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000321834
  ensembl transcript: ENST00000325438
  gene symbol: PACS2
  hgvsc: ENST00000325438.8:c.1879+28C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449254
  ensembl transcript: ENST00000551743
  gene symbol: PACS2
  hgvsc: ENST00000551743.1:c.421+28C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000551692
  gene symbol: PACS2
  hgvsc: ENST00000551692.1:n.2121+28C>T
  variant of: http://identifiers.org/hgnc/23794
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14686
  bin: 7.5e0
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3239
  bin: 2.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3887
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6942
  bin: 1.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4827
  bin: 2.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25335
  bin: 1.25e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4456
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6320
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 7.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 5718
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 9.75e1
  variant carriers: 109
num of homozygotes: 1
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: MQ

14-105850829-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105850829
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105850829
    reference: chr 14
allele count: 6
allele frequency: 7.55153925541823e-5
allele num: 79454
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393524
  ensembl transcript: ENST00000430725
  gene symbol: PACS2
  hgvsc: ENST00000430725.2:c.1654+29G>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000547903
  gene symbol: PACS2
  hgvsc: ENST00000547903.1:n.613+29G>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393559
  ensembl transcript: ENST00000447393
  gene symbol: PACS2
  hgvsc: ENST00000447393.1:c.1891+29G>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449525
  ensembl transcript: ENST00000547217
  gene symbol: PACS2
  hgvsc: ENST00000547217.1:c.1789+29G>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000321834
  ensembl transcript: ENST00000325438
  gene symbol: PACS2
  hgvsc: ENST00000325438.8:c.1879+29G>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000551692
  gene symbol: PACS2
  hgvsc: ENST00000551692.1:n.2121+29G>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000399732
  ensembl transcript: ENST00000458164
  gene symbol: PACS2
  hgvsc: ENST00000458164.2:c.1891+29G>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449254
  ensembl transcript: ENST00000551743
  gene symbol: PACS2
  hgvsc: ENST00000551743.1:c.421+29G>A
  variant of: http://identifiers.org/hgnc/23794
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15205
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4322
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7210
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2962
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4228
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25030
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6489
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26052
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 691
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4851
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5804
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 767
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 5.25e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

14-105850830-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105850830
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105850830
    reference: chr 14
allele count: 1
allele frequency: 1.257039420756235e-5
allele num: 79552
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393524
  ensembl transcript: ENST00000430725
  gene symbol: PACS2
  hgvsc: ENST00000430725.2:c.1654+30C>G
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393559
  ensembl transcript: ENST00000447393
  gene symbol: PACS2
  hgvsc: ENST00000447393.1:c.1891+30C>G
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449254
  ensembl transcript: ENST00000551743
  gene symbol: PACS2
  hgvsc: ENST00000551743.1:c.421+30C>G
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000547903
  gene symbol: PACS2
  hgvsc: ENST00000547903.1:n.613+30C>G
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449525
  ensembl transcript: ENST00000547217
  gene symbol: PACS2
  hgvsc: ENST00000547217.1:c.1789+30C>G
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000551692
  gene symbol: PACS2
  hgvsc: ENST00000551692.1:n.2121+30C>G
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000399732
  ensembl transcript: ENST00000458164
  gene symbol: PACS2
  hgvsc: ENST00000458164.2:c.1891+30C>G
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000321834
  ensembl transcript: ENST00000325438
  gene symbol: PACS2
  hgvsc: ENST00000325438.8:c.1879+30C>G
  variant of: http://identifiers.org/hgnc/23794
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2959
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15331
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4258
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4306
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7057
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25052
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5771
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2013
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3008
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5811
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 745
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: African
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

14-105850833-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105850833
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105850833
    reference: chr 14
allele count: 12
allele frequency: 1.555250265688587e-4
allele num: 77158
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000399732
  ensembl transcript: ENST00000458164
  gene symbol: PACS2
  hgvsc: ENST00000458164.2:c.1891+33C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000321834
  ensembl transcript: ENST00000325438
  gene symbol: PACS2
  hgvsc: ENST00000325438.8:c.1879+33C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000551692
  gene symbol: PACS2
  hgvsc: ENST00000551692.1:n.2121+33C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449254
  ensembl transcript: ENST00000551743
  gene symbol: PACS2
  hgvsc: ENST00000551743.1:c.421+33C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000547903
  gene symbol: PACS2
  hgvsc: ENST00000547903.1:n.613+33C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393559
  ensembl transcript: ENST00000447393
  gene symbol: PACS2
  hgvsc: ENST00000447393.1:c.1891+33C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393524
  ensembl transcript: ENST00000430725
  gene symbol: PACS2
  hgvsc: ENST00000430725.2:c.1654+33C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449525
  ensembl transcript: ENST00000547217
  gene symbol: PACS2
  hgvsc: ENST00000547217.1:c.1789+33C>T
  variant of: http://identifiers.org/hgnc/23794
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2536
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4634
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3830
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24377
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16097
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7511
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3219
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5027
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2129
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6589
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25767
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

14-105850834-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105850834
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105850834
    reference: chr 14
allele count: 148
allele frequency: 1.931862681112126e-3
allele num: 76610
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000399732
  ensembl transcript: ENST00000458164
  gene symbol: PACS2
  hgvsc: ENST00000458164.2:c.1891+34G>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393559
  ensembl transcript: ENST00000447393
  gene symbol: PACS2
  hgvsc: ENST00000447393.1:c.1891+34G>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449254
  ensembl transcript: ENST00000551743
  gene symbol: PACS2
  hgvsc: ENST00000551743.1:c.421+34G>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000547903
  gene symbol: PACS2
  hgvsc: ENST00000547903.1:n.613+34G>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000551692
  gene symbol: PACS2
  hgvsc: ENST00000551692.1:n.2121+34G>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449525
  ensembl transcript: ENST00000547217
  gene symbol: PACS2
  hgvsc: ENST00000547217.1:c.1789+34G>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393524
  ensembl transcript: ENST00000430725
  gene symbol: PACS2
  hgvsc: ENST00000430725.2:c.1654+34G>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000321834
  ensembl transcript: ENST00000325438
  gene symbol: PACS2
  hgvsc: ENST00000325438.8:c.1879+34G>A
  variant of: http://identifiers.org/hgnc/23794
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16402
  bin: 7.5e0
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7572
  bin: 1.75e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24170
  bin: 1.25e1
  variant carriers: 77
genotype depth: GenotypeDepth
  all individuals: 2397
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3728
  bin: 2.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4743
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2200
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 7.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 25747
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3232
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 8.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 5443
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 2
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
reference allele: G
site quality: MQ
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum

14-105850836-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105850836
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105850836
    reference: chr 14
allele count: 3
allele frequency: 4.03648986841043e-5
allele num: 74322
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000547903
  gene symbol: PACS2
  hgvsc: ENST00000547903.1:n.613+36C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449254
  ensembl transcript: ENST00000551743
  gene symbol: PACS2
  hgvsc: ENST00000551743.1:c.421+36C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449525
  ensembl transcript: ENST00000547217
  gene symbol: PACS2
  hgvsc: ENST00000547217.1:c.1789+36C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000321834
  ensembl transcript: ENST00000325438
  gene symbol: PACS2
  hgvsc: ENST00000325438.8:c.1879+36C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000399732
  ensembl transcript: ENST00000458164
  gene symbol: PACS2
  hgvsc: ENST00000458164.2:c.1891+36C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393524
  ensembl transcript: ENST00000430725
  gene symbol: PACS2
  hgvsc: ENST00000430725.2:c.1654+36C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393559
  ensembl transcript: ENST00000447393
  gene symbol: PACS2
  hgvsc: ENST00000447393.1:c.1891+36C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000551692
  gene symbol: PACS2
  hgvsc: ENST00000551692.1:n.2121+36C>T
  variant of: http://identifiers.org/hgnc/23794
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3365
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4980
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23542
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17093
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7897
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 732
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5820
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 919
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25119
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2312
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff

14-105850836-CGGGA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105850836
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105850832
    reference: chr 14
allele count: 1
allele frequency: 1.345496622803477e-5
allele num: 74322
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000399732
  ensembl transcript: ENST00000458164
  gene symbol: PACS2
  hgvsc: ENST00000458164.2:c.1891+39_1891+42delGAGG
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393524
  ensembl transcript: ENST00000430725
  gene symbol: PACS2
  hgvsc: ENST00000430725.2:c.1654+39_1654+42delGAGG
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000321834
  ensembl transcript: ENST00000325438
  gene symbol: PACS2
  hgvsc: ENST00000325438.8:c.1879+39_1879+42delGAGG
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449525
  ensembl transcript: ENST00000547217
  gene symbol: PACS2
  hgvsc: ENST00000547217.1:c.1789+39_1789+42delGAGG
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449254
  ensembl transcript: ENST00000551743
  gene symbol: PACS2
  hgvsc: ENST00000551743.1:c.421+39_421+42delGAGG
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000547903
  gene symbol: PACS2
  hgvsc: ENST00000547903.1:n.613+39_613+42delGAGG
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393559
  ensembl transcript: ENST00000447393
  gene symbol: PACS2
  hgvsc: ENST00000447393.1:c.1891+39_1891+42delGAGG
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000551692
  gene symbol: PACS2
  hgvsc: ENST00000551692.1:n.2121+39_2121+42delGAGG
  variant of: http://identifiers.org/hgnc/23794
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7897
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4980
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3365
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23542
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17093
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4349
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6638
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5820
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2312
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: Latino
reference allele: CGGGA
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

14-105850837-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105850837
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105850837
    reference: chr 14
allele count: 1
allele frequency: 1.397116351849782e-5
allele num: 71576
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000547903
  gene symbol: PACS2
  hgvsc: ENST00000547903.1:n.613+37G>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000551692
  gene symbol: PACS2
  hgvsc: ENST00000551692.1:n.2121+37G>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000321834
  ensembl transcript: ENST00000325438
  gene symbol: PACS2
  hgvsc: ENST00000325438.8:c.1879+37G>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000399732
  ensembl transcript: ENST00000458164
  gene symbol: PACS2
  hgvsc: ENST00000458164.2:c.1891+37G>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393559
  ensembl transcript: ENST00000447393
  gene symbol: PACS2
  hgvsc: ENST00000447393.1:c.1891+37G>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449525
  ensembl transcript: ENST00000547217
  gene symbol: PACS2
  hgvsc: ENST00000547217.1:c.1789+37G>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449254
  ensembl transcript: ENST00000551743
  gene symbol: PACS2
  hgvsc: ENST00000551743.1:c.421+37G>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393524
  ensembl transcript: ENST00000430725
  gene symbol: PACS2
  hgvsc: ENST00000430725.2:c.1654+37G>A
  variant of: http://identifiers.org/hgnc/23794
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5178
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2975
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22613
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8413
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18026
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5739
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3369
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23295
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 895
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6168
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

14-105850839-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105850839
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105850839
    reference: chr 14
allele count: 0
allele frequency: 0.0e0
allele num: 71980
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449254
  ensembl transcript: ENST00000551743
  gene symbol: PACS2
  hgvsc: ENST00000551743.1:c.421+39G>C
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000321834
  ensembl transcript: ENST00000325438
  gene symbol: PACS2
  hgvsc: ENST00000325438.8:c.1879+39G>C
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449525
  ensembl transcript: ENST00000547217
  gene symbol: PACS2
  hgvsc: ENST00000547217.1:c.1789+39G>C
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000551692
  gene symbol: PACS2
  hgvsc: ENST00000551692.1:n.2121+39G>C
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000399732
  ensembl transcript: ENST00000458164
  gene symbol: PACS2
  hgvsc: ENST00000458164.2:c.1891+39G>C
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000547903
  gene symbol: PACS2
  hgvsc: ENST00000547903.1:n.613+39G>C
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393524
  ensembl transcript: ENST00000430725
  gene symbol: PACS2
  hgvsc: ENST00000430725.2:c.1654+39G>C
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393559
  ensembl transcript: ENST00000447393
  gene symbol: PACS2
  hgvsc: ENST00000447393.1:c.1891+39G>C
  variant of: http://identifiers.org/hgnc/23794
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 18296
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5244
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22569
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3006
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1783
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5766
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6204
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 743
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2767
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

14-105850844-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105850844
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105850844
    reference: chr 14
allele count: 43
allele frequency: 6.408154749485858e-4
allele num: 67102
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000547903
  gene symbol: PACS2
  hgvsc: ENST00000547903.1:n.613+44A>G
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449254
  ensembl transcript: ENST00000551743
  gene symbol: PACS2
  hgvsc: ENST00000551743.1:c.421+44A>G
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000399732
  ensembl transcript: ENST00000458164
  gene symbol: PACS2
  hgvsc: ENST00000458164.2:c.1891+44A>G
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393559
  ensembl transcript: ENST00000447393
  gene symbol: PACS2
  hgvsc: ENST00000447393.1:c.1891+44A>G
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393524
  ensembl transcript: ENST00000430725
  gene symbol: PACS2
  hgvsc: ENST00000430725.2:c.1654+44A>G
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449525
  ensembl transcript: ENST00000547217
  gene symbol: PACS2
  hgvsc: ENST00000547217.1:c.1789+44A>G
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000321834
  ensembl transcript: ENST00000325438
  gene symbol: PACS2
  hgvsc: ENST00000325438.8:c.1879+44A>G
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000551692
  gene symbol: PACS2
  hgvsc: ENST00000551692.1:n.2121+44A>G
  variant of: http://identifiers.org/hgnc/23794
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3071
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20626
  bin: 1.25e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20347
  bin: 7.5e0
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 8351
  bin: 1.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5352
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3843
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4179
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 887
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 8.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1288
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1268
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 9.75e1
  variant carriers: 40
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum

14-105850846-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105850846
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105850846
    reference: chr 14
allele count: 1
allele frequency: 1.523786304208698e-5
allele num: 65626
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393524
  ensembl transcript: ENST00000430725
  gene symbol: PACS2
  hgvsc: ENST00000430725.2:c.1654+46G>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000321834
  ensembl transcript: ENST00000325438
  gene symbol: PACS2
  hgvsc: ENST00000325438.8:c.1879+46G>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000547903
  gene symbol: PACS2
  hgvsc: ENST00000547903.1:n.613+46G>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393559
  ensembl transcript: ENST00000447393
  gene symbol: PACS2
  hgvsc: ENST00000447393.1:c.1891+46G>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000399732
  ensembl transcript: ENST00000458164
  gene symbol: PACS2
  hgvsc: ENST00000458164.2:c.1891+46G>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449525
  ensembl transcript: ENST00000547217
  gene symbol: PACS2
  hgvsc: ENST00000547217.1:c.1789+46G>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449254
  ensembl transcript: ENST00000551743
  gene symbol: PACS2
  hgvsc: ENST00000551743.1:c.421+46G>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000551692
  gene symbol: PACS2
  hgvsc: ENST00000551692.1:n.2121+46G>A
  variant of: http://identifiers.org/hgnc/23794
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20941
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20103
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8246
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3127
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5395
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3878
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1307
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1005
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1408
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6602
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

14-105850846-GGGCCCC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105850846
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105850840
    reference: chr 14
allele count: 0
allele frequency: 0.0e0
allele num: 65626
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449254
  ensembl transcript: ENST00000551743
  gene symbol: PACS2
  hgvsc: ENST00000551743.1:c.421+49_421+54delCCCCGG
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000321834
  ensembl transcript: ENST00000325438
  gene symbol: PACS2
  hgvsc: ENST00000325438.8:c.1879+49_1879+54delCCCCGG
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000399732
  ensembl transcript: ENST00000458164
  gene symbol: PACS2
  hgvsc: ENST00000458164.2:c.1891+49_1891+54delCCCCGG
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000551692
  gene symbol: PACS2
  hgvsc: ENST00000551692.1:n.2121+49_2121+54delCCCCGG
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449525
  ensembl transcript: ENST00000547217
  gene symbol: PACS2
  hgvsc: ENST00000547217.1:c.1789+49_1789+54delCCCCGG
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393524
  ensembl transcript: ENST00000430725
  gene symbol: PACS2
  hgvsc: ENST00000430725.2:c.1654+49_1654+54delCCCCGG
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393559
  ensembl transcript: ENST00000447393
  gene symbol: PACS2
  hgvsc: ENST00000447393.1:c.1891+49_1891+54delCCCCGG
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000547903
  gene symbol: PACS2
  hgvsc: ENST00000547903.1:n.613+49_613+54delCCCCGG
  variant of: http://identifiers.org/hgnc/23794
canonical: true
consequence: intron
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 20941
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3127
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8246
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5395
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20103
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1005
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6805
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5671
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19196
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1307
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: GGGCCCC
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

http://identifiers.org/exac.variant/14-105850851-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105850851
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105850851
    reference: chr 14
allele count: 494
allele frequency: 7.980613893376414e-3
allele num: 61900
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000321834
  ensembl transcript: ENST00000325438
  gene symbol: PACS2
  hgvsc: ENST00000325438.8:c.1879+51C>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393524
  ensembl transcript: ENST00000430725
  gene symbol: PACS2
  hgvsc: ENST00000430725.2:c.1654+51C>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449254
  ensembl transcript: ENST00000551743
  gene symbol: PACS2
  hgvsc: ENST00000551743.1:c.421+51C>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000547903
  gene symbol: PACS2
  hgvsc: ENST00000547903.1:n.613+51C>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449525
  ensembl transcript: ENST00000547217
  gene symbol: PACS2
  hgvsc: ENST00000547217.1:c.1789+51C>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393559
  ensembl transcript: ENST00000447393
  gene symbol: PACS2
  hgvsc: ENST00000447393.1:c.1891+51C>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000399732
  ensembl transcript: ENST00000458164
  gene symbol: PACS2
  hgvsc: ENST00000458164.2:c.1891+51C>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000551692
  gene symbol: PACS2
  hgvsc: ENST00000551692.1:n.2121+51C>A
  variant of: http://identifiers.org/hgnc/23794
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 3.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 2.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 19357
  bin: 1.25e1
  variant carriers: 233
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5442
  bin: 2.5e0
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 21814
  bin: 7.5e0
  variant carriers: 228
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3129
  bin: 2.25e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8062
  bin: 1.75e1
  variant carriers: 91
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 3.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 4.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1469
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15573
  bin: 2.25e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 9020
  bin: 1.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 4582
  bin: 1.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 6789
  bin: 3.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 9.25e1
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 1333
  bin: 4.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 7.75e1
  variant carriers: 20
num of homozygotes: 27
population: European (Finnish)
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

14-105850852-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105850852
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105850852
    reference: chr 14
allele count: 18
allele frequency: 2.902476780185758e-4
allele num: 62016
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449254
  ensembl transcript: ENST00000551743
  gene symbol: PACS2
  hgvsc: ENST00000551743.1:c.421+52C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000321834
  ensembl transcript: ENST00000325438
  gene symbol: PACS2
  hgvsc: ENST00000325438.8:c.1879+52C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000547903
  gene symbol: PACS2
  hgvsc: ENST00000547903.1:n.613+52C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393524
  ensembl transcript: ENST00000430725
  gene symbol: PACS2
  hgvsc: ENST00000430725.2:c.1654+52C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000551692
  gene symbol: PACS2
  hgvsc: ENST00000551692.1:n.2121+52C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449525
  ensembl transcript: ENST00000547217
  gene symbol: PACS2
  hgvsc: ENST00000547217.1:c.1789+52C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393559
  ensembl transcript: ENST00000447393
  gene symbol: PACS2
  hgvsc: ENST00000447393.1:c.1891+52C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000399732
  ensembl transcript: ENST00000458164
  gene symbol: PACS2
  hgvsc: ENST00000458164.2:c.1891+52C>T
  variant of: http://identifiers.org/hgnc/23794
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5455
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8081
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3112
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19449
  bin: 1.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21704
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16079
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1452
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1094
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8714
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5527
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4642
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1553
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

14-105851165-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105851165
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105851165
    reference: chr 14
allele count: 31
allele frequency: 1.469890943575154e-3
allele num: 21090
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000321834
  ensembl transcript: ENST00000325438
  gene symbol: PACS2
  hgvsc: ENST00000325438.8:c.1880-51G>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000547903
  gene symbol: PACS2
  hgvsc: ENST00000547903.1:n.614-51G>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393524
  ensembl transcript: ENST00000430725
  gene symbol: PACS2
  hgvsc: ENST00000430725.2:c.1655-51G>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449254
  ensembl transcript: ENST00000551743
  gene symbol: PACS2
  hgvsc: ENST00000551743.1:c.422-51G>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393559
  ensembl transcript: ENST00000447393
  gene symbol: PACS2
  hgvsc: ENST00000447393.1:c.1892-51G>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000399732
  ensembl transcript: ENST00000458164
  gene symbol: PACS2
  hgvsc: ENST00000458164.2:c.1892-51G>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000551692
  gene symbol: PACS2
  hgvsc: ENST00000551692.1:n.2122-51G>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449525
  ensembl transcript: ENST00000547217
  gene symbol: PACS2
  hgvsc: ENST00000547217.1:c.1790-51G>A
  variant of: http://identifiers.org/hgnc/23794
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2064
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1525
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2304
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 33305
  bin: 2.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12240
  bin: 7.5e0
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6176
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6519
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23953
  bin: 7.5e0
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 5.25e1
  variant carriers: 2
num of homozygotes: 1
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

14-105851166-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105851166
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105851166
    reference: chr 14
allele count: 3
allele frequency: 1.420051121840386e-4
allele num: 21126
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000399732
  ensembl transcript: ENST00000458164
  gene symbol: PACS2
  hgvsc: ENST00000458164.2:c.1892-50C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000321834
  ensembl transcript: ENST00000325438
  gene symbol: PACS2
  hgvsc: ENST00000325438.8:c.1880-50C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393559
  ensembl transcript: ENST00000447393
  gene symbol: PACS2
  hgvsc: ENST00000447393.1:c.1892-50C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000551692
  gene symbol: PACS2
  hgvsc: ENST00000551692.1:n.2122-50C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449254
  ensembl transcript: ENST00000551743
  gene symbol: PACS2
  hgvsc: ENST00000551743.1:c.422-50C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000547903
  gene symbol: PACS2
  hgvsc: ENST00000547903.1:n.614-50C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393524
  ensembl transcript: ENST00000430725
  gene symbol: PACS2
  hgvsc: ENST00000430725.2:c.1655-50C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449525
  ensembl transcript: ENST00000547217
  gene symbol: PACS2
  hgvsc: ENST00000547217.1:c.1790-50C>T
  variant of: http://identifiers.org/hgnc/23794
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1508
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2327
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2081
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12209
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33312
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1334
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 665
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6133
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/14-105851167-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105851167
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105851167
    reference: chr 14
allele count: 0
allele frequency: 0.0e0
allele num: 21142
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000321834
  ensembl transcript: ENST00000325438
  gene symbol: PACS2
  hgvsc: ENST00000325438.8:c.1880-49A>C
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000399732
  ensembl transcript: ENST00000458164
  gene symbol: PACS2
  hgvsc: ENST00000458164.2:c.1892-49A>C
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449525
  ensembl transcript: ENST00000547217
  gene symbol: PACS2
  hgvsc: ENST00000547217.1:c.1790-49A>C
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000547903
  gene symbol: PACS2
  hgvsc: ENST00000547903.1:n.614-49A>C
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393559
  ensembl transcript: ENST00000447393
  gene symbol: PACS2
  hgvsc: ENST00000447393.1:c.1892-49A>C
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393524
  ensembl transcript: ENST00000430725
  gene symbol: PACS2
  hgvsc: ENST00000430725.2:c.1655-49A>C
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000551692
  gene symbol: PACS2
  hgvsc: ENST00000551692.1:n.2122-49A>C
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449254
  ensembl transcript: ENST00000551743
  gene symbol: PACS2
  hgvsc: ENST00000551743.1:c.422-49A>C
  variant of: http://identifiers.org/hgnc/23794
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 33301
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2326
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2134
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12212
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6175
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4890
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5775
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4424
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum

14-105851184-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105851184
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105851184
    reference: chr 14
allele count: 2
allele frequency: 9.251549634563789e-5
allele num: 21618
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393524
  ensembl transcript: ENST00000430725
  gene symbol: PACS2
  hgvsc: ENST00000430725.2:c.1655-32G>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000399732
  ensembl transcript: ENST00000458164
  gene symbol: PACS2
  hgvsc: ENST00000458164.2:c.1892-32G>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000547903
  gene symbol: PACS2
  hgvsc: ENST00000547903.1:n.614-32G>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000551692
  gene symbol: PACS2
  hgvsc: ENST00000551692.1:n.2122-32G>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449254
  ensembl transcript: ENST00000551743
  gene symbol: PACS2
  hgvsc: ENST00000551743.1:c.422-32G>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449525
  ensembl transcript: ENST00000547217
  gene symbol: PACS2
  hgvsc: ENST00000547217.1:c.1790-32G>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393559
  ensembl transcript: ENST00000447393
  gene symbol: PACS2
  hgvsc: ENST00000447393.1:c.1892-32G>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000321834
  ensembl transcript: ENST00000325438
  gene symbol: PACS2
  hgvsc: ENST00000325438.8:c.1880-32G>A
  variant of: http://identifiers.org/hgnc/23794
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2711
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14842
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31488
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2616
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26850
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum

http://identifiers.org/exac.variant/14-105851191-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105851191
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105851191
    reference: chr 14
allele count: 0
allele frequency: 0.0e0
allele num: 22350
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000551692
  gene symbol: PACS2
  hgvsc: ENST00000551692.1:n.2122-25C>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000321834
  ensembl transcript: ENST00000325438
  gene symbol: PACS2
  hgvsc: ENST00000325438.8:c.1880-25C>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393559
  ensembl transcript: ENST00000447393
  gene symbol: PACS2
  hgvsc: ENST00000447393.1:c.1892-25C>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000547903
  gene symbol: PACS2
  hgvsc: ENST00000547903.1:n.614-25C>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449525
  ensembl transcript: ENST00000547217
  gene symbol: PACS2
  hgvsc: ENST00000547217.1:c.1790-25C>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000399732
  ensembl transcript: ENST00000458164
  gene symbol: PACS2
  hgvsc: ENST00000458164.2:c.1892-25C>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449254
  ensembl transcript: ENST00000551743
  gene symbol: PACS2
  hgvsc: ENST00000551743.1:c.422-25C>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393524
  ensembl transcript: ENST00000430725
  gene symbol: PACS2
  hgvsc: ENST00000430725.2:c.1655-25C>A
  variant of: http://identifiers.org/hgnc/23794
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2878
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18068
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2841
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28684
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1410
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1611
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13420
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2230
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2405
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1004
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5256
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

14-105851198-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105851198
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105851198
    reference: chr 14
allele count: 0
allele frequency: 0.0e0
allele num: 23518
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449525
  ensembl transcript: ENST00000547217
  gene symbol: PACS2
  hgvsc: ENST00000547217.1:c.1790-18C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000551692
  gene symbol: PACS2
  hgvsc: ENST00000551692.1:n.2122-18C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393524
  ensembl transcript: ENST00000430725
  gene symbol: PACS2
  hgvsc: ENST00000430725.2:c.1655-18C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000321834
  ensembl transcript: ENST00000325438
  gene symbol: PACS2
  hgvsc: ENST00000325438.8:c.1880-18C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000547903
  gene symbol: PACS2
  hgvsc: ENST00000547903.1:n.614-18C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393559
  ensembl transcript: ENST00000447393
  gene symbol: PACS2
  hgvsc: ENST00000447393.1:c.1892-18C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000399732
  ensembl transcript: ENST00000458164
  gene symbol: PACS2
  hgvsc: ENST00000458164.2:c.1892-18C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449254
  ensembl transcript: ENST00000551743
  gene symbol: PACS2
  hgvsc: ENST00000551743.1:c.422-18C>T
  variant of: http://identifiers.org/hgnc/23794
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24800
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3016
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3122
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1909
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22031
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1442
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1003
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18097
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 819
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1484
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22809
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

14-105851199-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105851199
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105851199
    reference: chr 14
allele count: 1
allele frequency: 4.188657116528441e-5
allele num: 23874
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393524
  ensembl transcript: ENST00000430725
  gene symbol: PACS2
  hgvsc: ENST00000430725.2:c.1655-17G>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000321834
  ensembl transcript: ENST00000325438
  gene symbol: PACS2
  hgvsc: ENST00000325438.8:c.1880-17G>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000551692
  gene symbol: PACS2
  hgvsc: ENST00000551692.1:n.2122-17G>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393559
  ensembl transcript: ENST00000447393
  gene symbol: PACS2
  hgvsc: ENST00000447393.1:c.1892-17G>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449525
  ensembl transcript: ENST00000547217
  gene symbol: PACS2
  hgvsc: ENST00000547217.1:c.1790-17G>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000547903
  gene symbol: PACS2
  hgvsc: ENST00000547903.1:n.614-17G>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000399732
  ensembl transcript: ENST00000458164
  gene symbol: PACS2
  hgvsc: ENST00000458164.2:c.1892-17G>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449254
  ensembl transcript: ENST00000551743
  gene symbol: PACS2
  hgvsc: ENST00000551743.1:c.422-17G>T
  variant of: http://identifiers.org/hgnc/23794
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3196
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2018
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23648
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23117
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3037
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21932
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1360
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1498
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19581
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

14-105851199-GC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105851199
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105851198
    reference: chr 14
allele count: 5
allele frequency: 2.094328558264221e-4
allele num: 23874
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000321834
  ensembl transcript: ENST00000325438
  gene symbol: PACS2
  hgvsc: ENST00000325438.8:c.1880-15delC
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000547903
  gene symbol: PACS2
  hgvsc: ENST00000547903.1:n.614-15delC
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393524
  ensembl transcript: ENST00000430725
  gene symbol: PACS2
  hgvsc: ENST00000430725.2:c.1655-15delC
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449525
  ensembl transcript: ENST00000547217
  gene symbol: PACS2
  hgvsc: ENST00000547217.1:c.1790-15delC
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393559
  ensembl transcript: ENST00000447393
  gene symbol: PACS2
  hgvsc: ENST00000447393.1:c.1892-15delC
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000551692
  gene symbol: PACS2
  hgvsc: ENST00000551692.1:n.2122-15delC
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000399732
  ensembl transcript: ENST00000458164
  gene symbol: PACS2
  hgvsc: ENST00000458164.2:c.1892-15delC
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449254
  ensembl transcript: ENST00000551743
  gene symbol: PACS2
  hgvsc: ENST00000551743.1:c.422-15delC
  variant of: http://identifiers.org/hgnc/23794
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 3196
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3037
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23117
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23648
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2018
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21932
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 9.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 19581
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: GC
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: MQ

14-105851199-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105851199
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105851199
    reference: chr 14
allele count: 1
allele frequency: 4.188657116528441e-5
allele num: 23874
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449254
  ensembl transcript: ENST00000551743
  gene symbol: PACS2
  hgvsc: ENST00000551743.1:c.422-17G>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449525
  ensembl transcript: ENST00000547217
  gene symbol: PACS2
  hgvsc: ENST00000547217.1:c.1790-17G>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000547903
  gene symbol: PACS2
  hgvsc: ENST00000547903.1:n.614-17G>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393524
  ensembl transcript: ENST00000430725
  gene symbol: PACS2
  hgvsc: ENST00000430725.2:c.1655-17G>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000551692
  gene symbol: PACS2
  hgvsc: ENST00000551692.1:n.2122-17G>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000399732
  ensembl transcript: ENST00000458164
  gene symbol: PACS2
  hgvsc: ENST00000458164.2:c.1892-17G>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393559
  ensembl transcript: ENST00000447393
  gene symbol: PACS2
  hgvsc: ENST00000447393.1:c.1892-17G>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000321834
  ensembl transcript: ENST00000325438
  gene symbol: PACS2
  hgvsc: ENST00000325438.8:c.1880-17G>A
  variant of: http://identifiers.org/hgnc/23794
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 3196
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3037
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2018
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23648
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23117
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 21932
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1498
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1360
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1911
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5932
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD

14-105851209-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105851209
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105851209
    reference: chr 14
allele count: 0
allele frequency: 0.0e0
allele num: 26920
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000547903
  gene symbol: PACS2
  hgvsc: ENST00000547903.1:n.614-7C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393524
  ensembl transcript: ENST00000430725
  gene symbol: PACS2
  hgvsc: ENST00000430725.2:c.1655-7C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000321834
  ensembl transcript: ENST00000325438
  gene symbol: PACS2
  hgvsc: ENST00000325438.8:c.1880-7C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393559
  ensembl transcript: ENST00000447393
  gene symbol: PACS2
  hgvsc: ENST00000447393.1:c.1892-7C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449254
  ensembl transcript: ENST00000551743
  gene symbol: PACS2
  hgvsc: ENST00000551743.1:c.422-7C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000399732
  ensembl transcript: ENST00000458164
  gene symbol: PACS2
  hgvsc: ENST00000458164.2:c.1892-7C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449525
  ensembl transcript: ENST00000547217
  gene symbol: PACS2
  hgvsc: ENST00000547217.1:c.1790-7C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000551692
  gene symbol: PACS2
  hgvsc: ENST00000551692.1:n.2122-7C>T
  variant of: http://identifiers.org/hgnc/23794
canonical: true
consequence: splice region
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3882
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28716
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17230
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2632
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3169
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1573
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25907
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1565
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 4.75e1
  variant carriers: 0
hgvs: c.1892-7C>T
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP

14-105851225-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105851225
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105851225
    reference: chr 14
allele count: 0
allele frequency: 0.0e0
allele num: 33798
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000321834
  ensembl transcript: ENST00000325438
  gene symbol: PACS2
  hgvsc: ENST00000325438.8:c.1889C>T
  hgvsp: ENSP00000321834.8:p.Thr630Met
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000399732
  ensembl transcript: ENST00000458164
  gene symbol: PACS2
  hgvsc: ENST00000458164.2:c.1901C>T
  hgvsp: ENSP00000399732.2:p.Thr634Met
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393559
  ensembl transcript: ENST00000447393
  gene symbol: PACS2
  hgvsc: ENST00000447393.1:c.1901C>T
  hgvsp: ENSP00000393559.1:p.Thr634Met
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449254
  ensembl transcript: ENST00000551743
  gene symbol: PACS2
  hgvsc: ENST00000551743.1:c.431C>T
  hgvsp: ENSP00000449254.1:p.Thr144Met
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393524
  ensembl transcript: ENST00000430725
  gene symbol: PACS2
  hgvsc: ENST00000430725.2:c.1664C>T
  hgvsp: ENSP00000393524.2:p.Thr555Met
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449525
  ensembl transcript: ENST00000547217
  gene symbol: PACS2
  hgvsc: ENST00000547217.1:c.1799C>T
  hgvsp: ENSP00000449525.1:p.Thr600Met
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000547903
  gene symbol: PACS2
  hgvsc: ENST00000547903.1:n.623C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000551692
  gene symbol: PACS2
  hgvsc: ENST00000551692.1:n.2131C>T
  variant of: http://identifiers.org/hgnc/23794
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9290
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3368
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3450
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33619
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6076
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9013
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32336
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1354
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1096
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Thr634Met
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

14-105851235-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105851235
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105851235
    reference: chr 14
allele count: 1
allele frequency: 2.498625755834291e-5
allele num: 40022
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000399732
  ensembl transcript: ENST00000458164
  gene symbol: PACS2
  hgvsc: ENST00000458164.2:c.1911T>C
  hgvsp: ENST00000458164.2:c.1911T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449254
  ensembl transcript: ENST00000551743
  gene symbol: PACS2
  hgvsc: ENST00000551743.1:c.441T>C
  hgvsp: ENST00000551743.1:c.441T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000547903
  gene symbol: PACS2
  hgvsc: ENST00000547903.1:n.633T>C
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000321834
  ensembl transcript: ENST00000325438
  gene symbol: PACS2
  hgvsc: ENST00000325438.8:c.1899T>C
  hgvsp: ENST00000325438.8:c.1899T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449525
  ensembl transcript: ENST00000547217
  gene symbol: PACS2
  hgvsc: ENST00000547217.1:c.1809T>C
  hgvsp: ENST00000547217.1:c.1809T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000551692
  gene symbol: PACS2
  hgvsc: ENST00000551692.1:n.2141T>C
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393559
  ensembl transcript: ENST00000447393
  gene symbol: PACS2
  hgvsc: ENST00000447393.1:c.1911T>C
  hgvsp: ENST00000447393.1:c.1911T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393524
  ensembl transcript: ENST00000430725
  gene symbol: PACS2
  hgvsc: ENST00000430725.2:c.1674T>C
  hgvsp: ENST00000430725.2:c.1674T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23794
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5983
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3504
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3487
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34141
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1494
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8789
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33851
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 981
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5815
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ile637Ile
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum

14-105851242-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105851242
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105851242
    reference: chr 14
allele count: 1
allele frequency: 2.297688525343505e-5
allele num: 43522
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000547903
  gene symbol: PACS2
  hgvsc: ENST00000547903.1:n.640C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393559
  ensembl transcript: ENST00000447393
  gene symbol: PACS2
  hgvsc: ENST00000447393.1:c.1918C>T
  hgvsp: ENSP00000393559.1:p.Arg640Cys
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449525
  ensembl transcript: ENST00000547217
  gene symbol: PACS2
  hgvsc: ENST00000547217.1:c.1816C>T
  hgvsp: ENSP00000449525.1:p.Arg606Cys
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393524
  ensembl transcript: ENST00000430725
  gene symbol: PACS2
  hgvsc: ENST00000430725.2:c.1681C>T
  hgvsp: ENSP00000393524.2:p.Arg561Cys
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449254
  ensembl transcript: ENST00000551743
  gene symbol: PACS2
  hgvsc: ENST00000551743.1:c.448C>T
  hgvsp: ENSP00000449254.1:p.Arg150Cys
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000321834
  ensembl transcript: ENST00000325438
  gene symbol: PACS2
  hgvsc: ENST00000325438.8:c.1906C>T
  hgvsp: ENSP00000321834.8:p.Arg636Cys
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000399732
  ensembl transcript: ENST00000458164
  gene symbol: PACS2
  hgvsc: ENST00000458164.2:c.1918C>T
  hgvsp: ENSP00000399732.2:p.Arg640Cys
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000551692
  gene symbol: PACS2
  hgvsc: ENST00000551692.1:n.2148C>T
  variant of: http://identifiers.org/hgnc/23794
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33448
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4829
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3558
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3663
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10331
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1507
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 914
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg640Cys
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

14-105851244-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105851244
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105851244
    reference: chr 14
allele count: 2
allele frequency: 4.428305730227615e-5
allele num: 45164
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000551692
  gene symbol: PACS2
  hgvsc: ENST00000551692.1:n.2150C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000321834
  ensembl transcript: ENST00000325438
  gene symbol: PACS2
  hgvsc: ENST00000325438.8:c.1908C>T
  hgvsp: ENST00000325438.8:c.1908C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000399732
  ensembl transcript: ENST00000458164
  gene symbol: PACS2
  hgvsc: ENST00000458164.2:c.1920C>T
  hgvsp: ENST00000458164.2:c.1920C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393559
  ensembl transcript: ENST00000447393
  gene symbol: PACS2
  hgvsc: ENST00000447393.1:c.1920C>T
  hgvsp: ENST00000447393.1:c.1920C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000547903
  gene symbol: PACS2
  hgvsc: ENST00000547903.1:n.642C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393524
  ensembl transcript: ENST00000430725
  gene symbol: PACS2
  hgvsc: ENST00000430725.2:c.1683C>T
  hgvsp: ENST00000430725.2:c.1683C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449254
  ensembl transcript: ENST00000551743
  gene symbol: PACS2
  hgvsc: ENST00000551743.1:c.450C>T
  hgvsp: ENST00000551743.1:c.450C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449525
  ensembl transcript: ENST00000547217
  gene symbol: PACS2
  hgvsc: ENST00000547217.1:c.1818C>T
  hgvsp: ENST00000547217.1:c.1818C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23794
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4483
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3739
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33049
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3587
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10982
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13868
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 884
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33456
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg640Arg
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD

14-105851249-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105851249
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105851249
    reference: chr 14
allele count: 11
allele frequency: 2.350829201572918e-4
allele num: 46792
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393559
  ensembl transcript: ENST00000447393
  gene symbol: PACS2
  hgvsc: ENST00000447393.1:c.1925C>T
  hgvsp: ENSP00000393559.1:p.Thr642Met
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000321834
  ensembl transcript: ENST00000325438
  gene symbol: PACS2
  hgvsc: ENST00000325438.8:c.1913C>T
  hgvsp: ENSP00000321834.8:p.Thr638Met
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393524
  ensembl transcript: ENST00000430725
  gene symbol: PACS2
  hgvsc: ENST00000430725.2:c.1688C>T
  hgvsp: ENSP00000393524.2:p.Thr563Met
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449525
  ensembl transcript: ENST00000547217
  gene symbol: PACS2
  hgvsc: ENST00000547217.1:c.1823C>T
  hgvsp: ENSP00000449525.1:p.Thr608Met
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000551692
  gene symbol: PACS2
  hgvsc: ENST00000551692.1:n.2155C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449254
  ensembl transcript: ENST00000551743
  gene symbol: PACS2
  hgvsc: ENST00000551743.1:c.455C>T
  hgvsp: ENSP00000449254.1:p.Thr152Met
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000547903
  gene symbol: PACS2
  hgvsc: ENST00000547903.1:n.647C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000399732
  ensembl transcript: ENST00000458164
  gene symbol: PACS2
  hgvsc: ENST00000458164.2:c.1925C>T
  hgvsp: ENSP00000399732.2:p.Thr642Met
  variant of: http://identifiers.org/hgnc/23794
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3795
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4240
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3830
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11480
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32367
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12956
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 878
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31965
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 878
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr642Met
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

14-105851250-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105851250
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105851250
    reference: chr 14
allele count: 3
allele frequency: 6.371591198708691e-5
allele num: 47084
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000547903
  gene symbol: PACS2
  hgvsc: ENST00000547903.1:n.648G>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000551692
  gene symbol: PACS2
  hgvsc: ENST00000551692.1:n.2156G>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393559
  ensembl transcript: ENST00000447393
  gene symbol: PACS2
  hgvsc: ENST00000447393.1:c.1926G>A
  hgvsp: ENST00000447393.1:c.1926G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449525
  ensembl transcript: ENST00000547217
  gene symbol: PACS2
  hgvsc: ENST00000547217.1:c.1824G>A
  hgvsp: ENST00000547217.1:c.1824G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000399732
  ensembl transcript: ENST00000458164
  gene symbol: PACS2
  hgvsc: ENST00000458164.2:c.1926G>A
  hgvsp: ENST00000458164.2:c.1926G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449254
  ensembl transcript: ENST00000551743
  gene symbol: PACS2
  hgvsc: ENST00000551743.1:c.456G>A
  hgvsp: ENST00000551743.1:c.456G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393524
  ensembl transcript: ENST00000430725
  gene symbol: PACS2
  hgvsc: ENST00000430725.2:c.1689G>A
  hgvsp: ENST00000430725.2:c.1689G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000321834
  ensembl transcript: ENST00000325438
  gene symbol: PACS2
  hgvsc: ENST00000325438.8:c.1914G>A
  hgvsp: ENST00000325438.8:c.1914G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23794
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4154
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11607
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32224
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3809
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3861
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 903
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32051
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 860
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr642Thr
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

14-105851253-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105851253
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105851253
    reference: chr 14
allele count: 17
allele frequency: 3.488324373127591e-4
allele num: 48734
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449254
  ensembl transcript: ENST00000551743
  gene symbol: PACS2
  hgvsc: ENST00000551743.1:c.459G>A
  hgvsp: ENST00000551743.1:c.459G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000547903
  gene symbol: PACS2
  hgvsc: ENST00000547903.1:n.651G>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000551692
  gene symbol: PACS2
  hgvsc: ENST00000551692.1:n.2159G>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000321834
  ensembl transcript: ENST00000325438
  gene symbol: PACS2
  hgvsc: ENST00000325438.8:c.1917G>A
  hgvsp: ENST00000325438.8:c.1917G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393559
  ensembl transcript: ENST00000447393
  gene symbol: PACS2
  hgvsc: ENST00000447393.1:c.1929G>A
  hgvsp: ENST00000447393.1:c.1929G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393524
  ensembl transcript: ENST00000430725
  gene symbol: PACS2
  hgvsc: ENST00000430725.2:c.1692G>A
  hgvsp: ENST00000430725.2:c.1692G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000399732
  ensembl transcript: ENST00000458164
  gene symbol: PACS2
  hgvsc: ENST00000458164.2:c.1929G>A
  hgvsp: ENST00000458164.2:c.1929G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449525
  ensembl transcript: ENST00000547217
  gene symbol: PACS2
  hgvsc: ENST00000547217.1:c.1827G>A
  hgvsp: ENST00000547217.1:c.1827G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23794
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3920
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3934
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31773
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3824
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12281
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14809
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3906
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 818
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1783
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 32330
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gln643Gln
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: DP
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

14-105851257-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105851257
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105851257
    reference: chr 14
allele count: 2
allele frequency: 3.908845717859516e-5
allele num: 51166
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000547903
  gene symbol: PACS2
  hgvsc: ENST00000547903.1:n.655A>G
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000321834
  ensembl transcript: ENST00000325438
  gene symbol: PACS2
  hgvsc: ENST00000325438.8:c.1921A>G
  hgvsp: ENSP00000321834.8:p.Ile641Val
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449525
  ensembl transcript: ENST00000547217
  gene symbol: PACS2
  hgvsc: ENST00000547217.1:c.1831A>G
  hgvsp: ENSP00000449525.1:p.Ile611Val
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000551692
  gene symbol: PACS2
  hgvsc: ENST00000551692.1:n.2163A>G
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393524
  ensembl transcript: ENST00000430725
  gene symbol: PACS2
  hgvsc: ENST00000430725.2:c.1696A>G
  hgvsp: ENSP00000393524.2:p.Ile566Val
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393559
  ensembl transcript: ENST00000447393
  gene symbol: PACS2
  hgvsc: ENST00000447393.1:c.1933A>G
  hgvsp: ENSP00000393559.1:p.Ile645Val
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000399732
  ensembl transcript: ENST00000458164
  gene symbol: PACS2
  hgvsc: ENST00000458164.2:c.1933A>G
  hgvsp: ENSP00000399732.2:p.Ile645Val
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449254
  ensembl transcript: ENST00000551743
  gene symbol: PACS2
  hgvsc: ENST00000551743.1:c.463A>G
  hgvsp: ENSP00000449254.1:p.Ile155Val
  variant of: http://identifiers.org/hgnc/23794
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1521
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13512
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31028
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3629
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3976
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3774
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32199
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ile645Val
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

14-105851260-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105851260
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105851260
    reference: chr 14
allele count: 1
allele frequency: 1.923890876909462e-5
allele num: 51978
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000551692
  gene symbol: PACS2
  hgvsc: ENST00000551692.1:n.2166G>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393524
  ensembl transcript: ENST00000430725
  gene symbol: PACS2
  hgvsc: ENST00000430725.2:c.1699G>A
  hgvsp: ENSP00000393524.2:p.Ala567Thr
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000399732
  ensembl transcript: ENST00000458164
  gene symbol: PACS2
  hgvsc: ENST00000458164.2:c.1936G>A
  hgvsp: ENSP00000399732.2:p.Ala646Thr
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449525
  ensembl transcript: ENST00000547217
  gene symbol: PACS2
  hgvsc: ENST00000547217.1:c.1834G>A
  hgvsp: ENSP00000449525.1:p.Ala612Thr
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449254
  ensembl transcript: ENST00000551743
  gene symbol: PACS2
  hgvsc: ENST00000551743.1:c.466G>A
  hgvsp: ENSP00000449254.1:p.Ala156Thr
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393559
  ensembl transcript: ENST00000447393
  gene symbol: PACS2
  hgvsc: ENST00000447393.1:c.1936G>A
  hgvsp: ENSP00000393559.1:p.Ala646Thr
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000321834
  ensembl transcript: ENST00000325438
  gene symbol: PACS2
  hgvsc: ENST00000325438.8:c.1924G>A
  hgvsp: ENSP00000321834.8:p.Ala642Thr
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000547903
  gene symbol: PACS2
  hgvsc: ENST00000547903.1:n.658G>A
  variant of: http://identifiers.org/hgnc/23794
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13715
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3588
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4053
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4000
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30404
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3636
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1826
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1002
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala646Thr
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

14-105851270-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105851270
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105851270
    reference: chr 14
allele count: 1
allele frequency: 1.915635416267576e-5
allele num: 52202
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000551692
  gene symbol: PACS2
  hgvsc: ENST00000551692.1:n.2176A>G
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449254
  ensembl transcript: ENST00000551743
  gene symbol: PACS2
  hgvsc: ENST00000551743.1:c.476A>G
  hgvsp: ENSP00000449254.1:p.Asn159Ser
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393559
  ensembl transcript: ENST00000447393
  gene symbol: PACS2
  hgvsc: ENST00000447393.1:c.1946A>G
  hgvsp: ENSP00000393559.1:p.Asn649Ser
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000399732
  ensembl transcript: ENST00000458164
  gene symbol: PACS2
  hgvsc: ENST00000458164.2:c.1946A>G
  hgvsp: ENSP00000399732.2:p.Asn649Ser
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000321834
  ensembl transcript: ENST00000325438
  gene symbol: PACS2
  hgvsc: ENST00000325438.8:c.1934A>G
  hgvsp: ENSP00000321834.8:p.Asn645Ser
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393524
  ensembl transcript: ENST00000430725
  gene symbol: PACS2
  hgvsc: ENST00000430725.2:c.1709A>G
  hgvsp: ENSP00000393524.2:p.Asn570Ser
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000547903
  gene symbol: PACS2
  hgvsc: ENST00000547903.1:n.668A>G
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449525
  ensembl transcript: ENST00000547217
  gene symbol: PACS2
  hgvsc: ENST00000547217.1:c.1844A>G
  hgvsp: ENSP00000449525.1:p.Asn615Ser
  variant of: http://identifiers.org/hgnc/23794
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4126
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30060
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3997
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5312
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12118
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4040
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 935
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1002
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32576
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15087
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asn649Ser
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP

14-105851275-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105851275
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105851275
    reference: chr 14
allele count: 1
allele frequency: 1.932890057213546e-5
allele num: 51736
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393559
  ensembl transcript: ENST00000447393
  gene symbol: PACS2
  hgvsc: ENST00000447393.1:c.1951G>A
  hgvsp: ENSP00000393559.1:p.Ala651Thr
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449525
  ensembl transcript: ENST00000547217
  gene symbol: PACS2
  hgvsc: ENST00000547217.1:c.1849G>A
  hgvsp: ENSP00000449525.1:p.Ala617Thr
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449254
  ensembl transcript: ENST00000551743
  gene symbol: PACS2
  hgvsc: ENST00000551743.1:c.481G>A
  hgvsp: ENSP00000449254.1:p.Ala161Thr
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000399732
  ensembl transcript: ENST00000458164
  gene symbol: PACS2
  hgvsc: ENST00000458164.2:c.1951G>A
  hgvsp: ENSP00000399732.2:p.Ala651Thr
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393524
  ensembl transcript: ENST00000430725
  gene symbol: PACS2
  hgvsc: ENST00000430725.2:c.1714G>A
  hgvsp: ENSP00000393524.2:p.Ala572Thr
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000547903
  gene symbol: PACS2
  hgvsc: ENST00000547903.1:n.673G>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000321834
  ensembl transcript: ENST00000325438
  gene symbol: PACS2
  hgvsc: ENST00000325438.8:c.1939G>A
  hgvsp: ENSP00000321834.8:p.Ala647Thr
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000551692
  gene symbol: PACS2
  hgvsc: ENST00000551692.1:n.2181G>A
  variant of: http://identifiers.org/hgnc/23794
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1537
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4125
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11233
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4293
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5943
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29884
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1833
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 998
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14296
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 756
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala651Thr
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum

14-105851292-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105851292
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105851292
    reference: chr 14
allele count: 1
allele frequency: 2.049516314149861e-5
allele num: 48792
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393559
  ensembl transcript: ENST00000447393
  gene symbol: PACS2
  hgvsc: ENST00000447393.1:c.1968C>T
  hgvsp: ENST00000447393.1:c.1968C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000547903
  gene symbol: PACS2
  hgvsc: ENST00000547903.1:n.690C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449254
  ensembl transcript: ENST00000551743
  gene symbol: PACS2
  hgvsc: ENST00000551743.1:c.498C>T
  hgvsp: ENST00000551743.1:c.498C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449525
  ensembl transcript: ENST00000547217
  gene symbol: PACS2
  hgvsc: ENST00000547217.1:c.1866C>T
  hgvsp: ENST00000547217.1:c.1866C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000551692
  gene symbol: PACS2
  hgvsc: ENST00000551692.1:n.2198C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000321834
  ensembl transcript: ENST00000325438
  gene symbol: PACS2
  hgvsc: ENST00000325438.8:c.1956C>T
  hgvsp: ENST00000325438.8:c.1956C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000399732
  ensembl transcript: ENST00000458164
  gene symbol: PACS2
  hgvsc: ENST00000458164.2:c.1968C>T
  hgvsp: ENST00000458164.2:c.1968C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393524
  ensembl transcript: ENST00000430725
  gene symbol: PACS2
  hgvsc: ENST00000430725.2:c.1731C>T
  hgvsp: ENST00000430725.2:c.1731C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23794
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6845
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28586
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1525
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8638
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3948
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7373
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 875
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33983
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ile656Ile
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: DP

14-105851300-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105851300
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105851300
    reference: chr 14
allele count: 5
allele frequency: 1.087003782773164e-4
allele num: 45998
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449525
  ensembl transcript: ENST00000547217
  gene symbol: PACS2
  hgvsc: ENST00000547217.1:c.1874C>T
  hgvsp: ENSP00000449525.1:p.Ala625Val
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000547903
  gene symbol: PACS2
  hgvsc: ENST00000547903.1:n.698C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393524
  ensembl transcript: ENST00000430725
  gene symbol: PACS2
  hgvsc: ENST00000430725.2:c.1739C>T
  hgvsp: ENSP00000393524.2:p.Ala580Val
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000551692
  gene symbol: PACS2
  hgvsc: ENST00000551692.1:n.2206C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393559
  ensembl transcript: ENST00000447393
  gene symbol: PACS2
  hgvsc: ENST00000447393.1:c.1976C>T
  hgvsp: ENSP00000393559.1:p.Ala659Val
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000399732
  ensembl transcript: ENST00000458164
  gene symbol: PACS2
  hgvsc: ENST00000458164.2:c.1976C>T
  hgvsp: ENSP00000399732.2:p.Ala659Val
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449254
  ensembl transcript: ENST00000551743
  gene symbol: PACS2
  hgvsc: ENST00000551743.1:c.506C>T
  hgvsp: ENSP00000449254.1:p.Ala169Val
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000321834
  ensembl transcript: ENST00000325438
  gene symbol: PACS2
  hgvsc: ENST00000325438.8:c.1964C>T
  hgvsp: ENSP00000321834.8:p.Ala655Val
  variant of: http://identifiers.org/hgnc/23794
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5313
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9893
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26748
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9674
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3711
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1787
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 923
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 660
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10305
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala659Val
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

14-105851310-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105851310
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105851310
    reference: chr 14
allele count: 1
allele frequency: 2.366863905325444e-5
allele num: 42250
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000551692
  gene symbol: PACS2
  hgvsc: ENST00000551692.1:n.2216C>G
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449254
  ensembl transcript: ENST00000551743
  gene symbol: PACS2
  hgvsc: ENST00000551743.1:c.516C>G
  hgvsp: ENST00000551743.1:c.516C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393524
  ensembl transcript: ENST00000430725
  gene symbol: PACS2
  hgvsc: ENST00000430725.2:c.1749C>G
  hgvsp: ENST00000430725.2:c.1749C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000399732
  ensembl transcript: ENST00000458164
  gene symbol: PACS2
  hgvsc: ENST00000458164.2:c.1986C>G
  hgvsp: ENST00000458164.2:c.1986C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393559
  ensembl transcript: ENST00000447393
  gene symbol: PACS2
  hgvsc: ENST00000447393.1:c.1986C>G
  hgvsp: ENST00000447393.1:c.1986C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000321834
  ensembl transcript: ENST00000325438
  gene symbol: PACS2
  hgvsc: ENST00000325438.8:c.1974C>G
  hgvsp: ENST00000325438.8:c.1974C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000547903
  gene symbol: PACS2
  hgvsc: ENST00000547903.1:n.708C>G
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449525
  ensembl transcript: ENST00000547217
  gene symbol: PACS2
  hgvsc: ENST00000547217.1:c.1884C>G
  hgvsp: ENST00000547217.1:c.1884C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23794
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4057
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14332
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9530
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23903
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3426
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1450
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 862
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Thr662Thr
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

14-105851329-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105851329
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105851329
    reference: chr 14
allele count: 0
allele frequency: 0.0e0
allele num: 27442
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000321834
  ensembl transcript: ENST00000325438
  gene symbol: PACS2
  hgvsc: ENST00000325438.8:c.1988+5C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000551692
  gene symbol: PACS2
  hgvsc: ENST00000551692.1:n.2230+5C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393559
  ensembl transcript: ENST00000447393
  gene symbol: PACS2
  hgvsc: ENST00000447393.1:c.2000+5C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000399732
  ensembl transcript: ENST00000458164
  gene symbol: PACS2
  hgvsc: ENST00000458164.2:c.2000+5C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393524
  ensembl transcript: ENST00000430725
  gene symbol: PACS2
  hgvsc: ENST00000430725.2:c.1763+5C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000547903
  gene symbol: PACS2
  hgvsc: ENST00000547903.1:n.722+5C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449525
  ensembl transcript: ENST00000547217
  gene symbol: PACS2
  hgvsc: ENST00000547217.1:c.1898+5C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449254
  ensembl transcript: ENST00000551743
  gene symbol: PACS2
  hgvsc: ENST00000551743.1:c.530+5C>T
  variant of: http://identifiers.org/hgnc/23794
canonical: true
consequence: splice region
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2770
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4301
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15724
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27786
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3005
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2030
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1450
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 2.75e1
  variant carriers: 0
hgvs: c.2000+5C>T
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

14-105851331-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105851331
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105851331
    reference: chr 14
allele count: 8
allele frequency: 2.972209838014564e-4
allele num: 26916
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449525
  ensembl transcript: ENST00000547217
  gene symbol: PACS2
  hgvsc: ENST00000547217.1:c.1898+7C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393524
  ensembl transcript: ENST00000430725
  gene symbol: PACS2
  hgvsc: ENST00000430725.2:c.1763+7C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000399732
  ensembl transcript: ENST00000458164
  gene symbol: PACS2
  hgvsc: ENST00000458164.2:c.2000+7C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000321834
  ensembl transcript: ENST00000325438
  gene symbol: PACS2
  hgvsc: ENST00000325438.8:c.1988+7C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000547903
  gene symbol: PACS2
  hgvsc: ENST00000547903.1:n.722+7C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393559
  ensembl transcript: ENST00000447393
  gene symbol: PACS2
  hgvsc: ENST00000447393.1:c.2000+7C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000551692
  gene symbol: PACS2
  hgvsc: ENST00000551692.1:n.2230+7C>T
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449254
  ensembl transcript: ENST00000551743
  gene symbol: PACS2
  hgvsc: ENST00000551743.1:c.530+7C>T
  variant of: http://identifiers.org/hgnc/23794
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4004
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2720
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15457
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2985
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1406
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28340
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1537
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28592
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2032
  bin: 1.75e1
  variant carriers: 0
hgvs: c.2000+7C>T
num of homozygotes: 1
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

14-105851332-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105851332
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105851332
    reference: chr 14
allele count: 2
allele frequency: 8.01153661272232e-5
allele num: 24964
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449525
  ensembl transcript: ENST00000547217
  gene symbol: PACS2
  hgvsc: ENST00000547217.1:c.1898+8G>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000547903
  gene symbol: PACS2
  hgvsc: ENST00000547903.1:n.722+8G>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000551692
  gene symbol: PACS2
  hgvsc: ENST00000551692.1:n.2230+8G>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000321834
  ensembl transcript: ENST00000325438
  gene symbol: PACS2
  hgvsc: ENST00000325438.8:c.1988+8G>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393524
  ensembl transcript: ENST00000430725
  gene symbol: PACS2
  hgvsc: ENST00000430725.2:c.1763+8G>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449254
  ensembl transcript: ENST00000551743
  gene symbol: PACS2
  hgvsc: ENST00000551743.1:c.530+8G>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000399732
  ensembl transcript: ENST00000458164
  gene symbol: PACS2
  hgvsc: ENST00000458164.2:c.2000+8G>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393559
  ensembl transcript: ENST00000447393
  gene symbol: PACS2
  hgvsc: ENST00000447393.1:c.2000+8G>A
  variant of: http://identifiers.org/hgnc/23794
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3288
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2618
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14658
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29482
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2922
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2580
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2123
  bin: 1.25e1
  variant carriers: 0
hgvs: c.2000+8G>A
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

14-105851333-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 105851333
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 105851333
    reference: chr 14
allele count: 1
allele frequency: 4.000960230455309e-5
allele num: 24994
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000551692
  gene symbol: PACS2
  hgvsc: ENST00000551692.1:n.2230+9G>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000399732
  ensembl transcript: ENST00000458164
  gene symbol: PACS2
  hgvsc: ENST00000458164.2:c.2000+9G>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449254
  ensembl transcript: ENST00000551743
  gene symbol: PACS2
  hgvsc: ENST00000551743.1:c.530+9G>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000321834
  ensembl transcript: ENST00000325438
  gene symbol: PACS2
  hgvsc: ENST00000325438.8:c.1988+9G>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393559
  ensembl transcript: ENST00000447393
  gene symbol: PACS2
  hgvsc: ENST00000447393.1:c.2000+9G>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000393524
  ensembl transcript: ENST00000430725
  gene symbol: PACS2
  hgvsc: ENST00000430725.2:c.1763+9G>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl protein: ENSP00000449525
  ensembl transcript: ENST00000547217
  gene symbol: PACS2
  hgvsc: ENST00000547217.1:c.1898+9G>A
  variant of: http://identifiers.org/hgnc/23794
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179364
  ensembl transcript: ENST00000547903
  gene symbol: PACS2
  hgvsc: ENST00000547903.1:n.722+9G>A
  variant of: http://identifiers.org/hgnc/23794
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14617
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2928
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2625
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29629
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3212
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 3113
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 397
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 503
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 370
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 229
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 427
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 346
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 432
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3976
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48280
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9632
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.581827960391028e-5
allele num: 63218
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.260956674179814e-5
allele num: 15972
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5904
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8312
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11218
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 832
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.8e0

FS
type: SiteQuality
SIO_000300: 8.476000000000001e0

DP
type: SiteQuality
SIO_000300: 1.353864e6

QD
type: SiteQuality
SIO_000300: 1.118e1

VQSLOD
type: SiteQuality
SIO_000300: -9.362e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.11e-1

MQ
type: SiteQuality
SIO_000300: 5.946e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.49e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.02e-1

GenotypeQuality
all individuals: 377
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3072
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3993
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 755
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 388
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 369
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 424
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 524
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 440
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 592
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5910
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8316
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9668
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11218
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63374
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15998
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.204819277108434e-3
allele num: 830
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.456e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.43e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.52e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.23e0

DP
type: SiteQuality
SIO_000300: 1.355991e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.435e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.52e-1

GenotypeQuality
all individuals: 67
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 421
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 581
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 370
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 491
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 386
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 375
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48542
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3950
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9674
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 830
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.907892392659897e-5
allele num: 11226
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.576093809103518e-5
allele num: 63448
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5902
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8318
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15988
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 6.12e0

VQSLOD
type: SiteQuality
SIO_000300: -6.552e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.199999999999999e-2

DP
type: SiteQuality
SIO_000300: 1.359123e6

MQRankSum
type: SiteQuality
SIO_000300: 2.4e-1

FS
type: SiteQuality
SIO_000300: 7.81e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.55e-1

MQ
type: SiteQuality
SIO_000300: 5.953e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.199999999999999e-2

GenotypeQuality
all individuals: 366
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 590
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 406
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 501
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48641
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3036
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3950
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63494
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 828
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9696
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11224
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.257039169065198e-5
allele num: 15982
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8322
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5900
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.359313e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.36e-1

FS
type: SiteQuality
SIO_000300: 6.121e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.860000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.81e-1

QD
type: SiteQuality
SIO_000300: 1.308e1

MQRankSum
type: SiteQuality
SIO_000300: 1.42e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.49e-1

GenotypeQuality
all individuals: 828
bin: 9.75e1
variant carriers: 471

GenotypeQuality
all individuals: 3065
bin: 2.25e1
variant carriers: 1

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

GenotypeQuality
all individuals: 21
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 43
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 413
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 354
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 169
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 713
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48585
bin: 6.25e1
variant carriers: 3

GenotypeQuality
all individuals: 562
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3888
bin: 6.75e1
variant carriers: 1

Other
type: Population
allele count: 2
allele frequency: 2.421307506053269e-3
allele num: 826
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 24
allele frequency: 4.066418163334463e-3
allele num: 5902
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 422
allele frequency: 6.638769153320958e-3
allele num: 63566
num of homozygotes: 3

South Asian
type: Population
allele count: 9
allele frequency: 5.634861006761833e-4
allele num: 15972
num of homozygotes: 0

African
type: Population
allele count: 8
allele frequency: 8.230452674897119e-4
allele num: 9720
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8328
num of homozygotes: 0

Latino
type: Population
allele count: 20
allele frequency: 1.781895937277263e-3
allele num: 11224
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.9e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.94e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.0e-2

QD
type: SiteQuality
SIO_000300: 1.006e1

VQSLOD
type: SiteQuality
SIO_000300: 4.33e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.57e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.366506e6

GenotypeQuality
all individuals: 293
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 410
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3293
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3940
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 730
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 373
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 362
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 371
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 48794
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 379
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.030290541932825e-4
allele num: 9706
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11204
num of homozygotes: 0

South Asian
type: Population
allele count: 7
allele frequency: 4.390366281986954e-4
allele num: 15944
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5894
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.724855891895298e-5
allele num: 63494
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8322
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

MQ
type: SiteQuality
SIO_000300: 5.919e1

QD
type: SiteQuality
SIO_000300: 9.41e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.47e-1

FS
type: SiteQuality
SIO_000300: 2.513e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.15e0

MQRankSum
type: SiteQuality
SIO_000300: 7.64e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.3e-1

DP
type: SiteQuality
SIO_000300: 1.358454e6

GenotypeQuality
all individuals: 43
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 283
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 48653
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 364
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 394
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3357
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 569
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 725
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5882
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.93016610108948e-5
allele num: 11198
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8318
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63466
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9700
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15928
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.65e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.16e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.42e0

MQRankSum
type: SiteQuality
SIO_000300: -1.79e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.326e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.357315e6

GenotypeQuality
all individuals: 303
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 411
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3938
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 569
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 283
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 364
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 394
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 371
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9700
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.72694040903791e-5
allele num: 63466
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8318
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5882
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11198
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15928
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.79e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.326e0

VQSLOD
type: SiteQuality
SIO_000300: 1.16e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.65e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.56e-1

DP
type: SiteQuality
SIO_000300: 1.357315e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

QD
type: SiteQuality
SIO_000300: 9.42e0

GenotypeQuality
all individuals: 340
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 233
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 527
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46730
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 791
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 415
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 689
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 361
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3807
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 560
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4147
bin: 2.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5794
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9606
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.584786053882726e-5
allele num: 63100
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8246
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11144
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15822
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.59e-1

FS
type: SiteQuality
SIO_000300: 1.194e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.52e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

QD
type: SiteQuality
SIO_000300: 1.116e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

MQRankSum
type: SiteQuality
SIO_000300: -8.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.458e0

VQSLOD
type: SiteQuality
SIO_000300: 5.629999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.343381e6

GenotypeQuality
all individuals: 412
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 543
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 533
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 357
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 420
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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
all individuals: 3812
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4242
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15816
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5774
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8242
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.519880684162092e-5
allele num: 63026
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 816
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.134e0

DP
type: SiteQuality
SIO_000300: 1.342305e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 9.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.2e-2

QD
type: SiteQuality
SIO_000300: 1.156e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.12e-1

FS
type: SiteQuality
SIO_000300: 4.272e0

GenotypeQuality
all individuals: 361
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 646
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 405
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 439
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 46654
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 578
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 523
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 670
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 386
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9550
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 818
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62846
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15758
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.217730150998539e-4
allele num: 8212
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11128
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5742
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.62e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.53e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.36e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.25e-1

DP
type: SiteQuality
SIO_000300: 1.337673e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.226e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.59e-1

GenotypeQuality
all individuals: 45049
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 461
bin: 4.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 442
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 665
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 658
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 413
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1009
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4924
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3645
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 16
allele frequency: 1.44196106705119e-3
allele num: 11096
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 816
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9512
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8200
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15712
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5708
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62644
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.888e0

MQRankSum
type: SiteQuality
SIO_000300: 3.76e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.56e0

DP
type: SiteQuality
SIO_000300: 1.332186e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.1e-2

QD
type: SiteQuality
SIO_000300: 1.282e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.664e0

GenotypeQuality
all individuals: 451
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5250
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 655
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3570
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 361
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 78
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 441
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 219
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9484
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.599488163787588e-5
allele num: 62520
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8178
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15698
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11084
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 816
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5668
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.32e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.44e0

VQSLOD
type: SiteQuality
SIO_000300: -1.683e0

MQRankSum
type: SiteQuality
SIO_000300: -1.032e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.61e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 7.24e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

DP
type: SiteQuality
SIO_000300: 1.326902e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.61e0

GenotypeQuality
all individuals: 69
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 361
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 101
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 623
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 693
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3551
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 313
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 706
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 530
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 190
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 501
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11048
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8162
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15658
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 814
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.771793054571226e-4
allele num: 5644
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62376
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.1e-1

QD
type: SiteQuality
SIO_000300: 1.12e1

DP
type: SiteQuality
SIO_000300: 1.321071e6

VQSLOD
type: SiteQuality
SIO_000300: 2.95e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.65e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 22
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45934
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 457
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 503
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 375
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 705
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 345
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 360
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 492
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5644
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62366
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 814
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.225490196078431e-4
allele num: 8160
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11052
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15668
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9458
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.321411e6

FS
type: SiteQuality
SIO_000300: 1.568e0

MQRankSum
type: SiteQuality
SIO_000300: 2.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.077e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.378e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.37e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.671e0

QD
type: SiteQuality
SIO_000300: 5.51e0

GenotypeQuality
all individuals: 42
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 591
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 897
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 304
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 887
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 497
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variant carriers: 0

GenotypeQuality
all individuals: 491
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variant carriers: 0

GenotypeQuality
all individuals: 27
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variant carriers: 0

GenotypeQuality
all individuals: 458
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variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 588
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10876
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.624906567872347e-5
allele num: 61542
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 812
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5528
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9328
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15486
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.986e0

FS
type: SiteQuality
SIO_000300: 3.59e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.44e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.94e0

VQSLOD
type: SiteQuality
SIO_000300: -3.456e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.16e0

QD
type: SiteQuality
SIO_000300: 1.792e1

DP
type: SiteQuality
SIO_000300: 1.296978e6

GenotypeQuality
all individuals: 741
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 362
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variant carriers: 3

GenotypeQuality
all individuals: 312
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3336
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7688
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 990
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 564
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 537
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 9.255831173639393e-5
allele num: 10804
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7988
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9246
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 808
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.268828451882845e-5
allele num: 61184
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5474
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15418
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.812e0

DP
type: SiteQuality
SIO_000300: 1.285872e6

MQRankSum
type: SiteQuality
SIO_000300: 5.81e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -8.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.34e-1

MQ
type: SiteQuality
SIO_000300: 5.95e1

QD
type: SiteQuality
SIO_000300: 1.137e1

VQSLOD
type: SiteQuality
SIO_000300: 5.86e-1

GenotypeQuality
all individuals: 29
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 430
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 538
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 617
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3271
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 288
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 379
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1186
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 41542
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9026
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9144
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60424
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15288
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10654
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.27000254000508e-4
allele num: 7874
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5372
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.006e0

DP
type: SiteQuality
SIO_000300: 1.262888e6

QD
type: SiteQuality
SIO_000300: 7.69e0

VQSLOD
type: SiteQuality
SIO_000300: -5.456e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.849e0

MQRankSum
type: SiteQuality
SIO_000300: -7.4e-1

MQ
type: SiteQuality
SIO_000300: 5.946e1

GenotypeQuality
all individuals: 422
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 626
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 341
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 262
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 529
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41289
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1220
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 360
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5336
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 794
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.659200265472042e-5
allele num: 60270
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7844
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10628
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15272
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.548e0

MQ
type: SiteQuality
SIO_000300: 5.93e1

DP
type: SiteQuality
SIO_000300: 1.258376e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.94e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.88e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.4e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.41e0

MQRankSum
type: SiteQuality
SIO_000300: 9.29e-1

GenotypeQuality
all individuals: 159
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 398
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 379
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35875
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1806
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12812
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 955
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 74
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variant carriers: 0

GenotypeQuality
all individuals: 479
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2929
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.710746912101824e-5
allele num: 58454
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7492
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10324
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8768
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14978
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5098
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.61e-1

QD
type: SiteQuality
SIO_000300: 8.4e0

FS
type: SiteQuality
SIO_000300: 4.509e0

DP
type: SiteQuality
SIO_000300: 1.196998e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.74e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.23e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.74e-2

MQ
type: SiteQuality
SIO_000300: 5.941e1

MQRankSum
type: SiteQuality
SIO_000300: -3.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

GenotypeQuality
all individuals: 2656
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28209
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 327
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2645
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 968
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1386
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 390
bin: 9.75e1
variant carriers: 33

GenotypeQuality
all individuals: 150
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 486
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variant carriers: 1

GenotypeQuality
all individuals: 72
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 607
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 395
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2387
bin: 6.75e1
variant carriers: 1

Latino
type: Population
allele count: 4
allele frequency: 4.117768169652048e-4
allele num: 9714
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6988
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14486
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8332
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 732
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 30
allele frequency: 5.379814934366257e-4
allele num: 55764
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 2.073828287017835e-4
allele num: 4822
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.16e0

QD
type: SiteQuality
SIO_000300: 1.187e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.07e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.53e0

MQRankSum
type: SiteQuality
SIO_000300: 1.27e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 6.57e-1

DP
type: SiteQuality
SIO_000300: 1.105434e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.26e-1

GenotypeQuality
all individuals: 314
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1280
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29033
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2661
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 416
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 247
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variant carriers: 0

GenotypeQuality
all individuals: 18110
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 430
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
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variant carriers: 0

GenotypeQuality
all individuals: 361
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 397
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 407
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8338
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 730
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9720
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.898454746136865e-5
allele num: 14496
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4832
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6976
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.586028831671807e-5
allele num: 55772
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.93e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.5e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -4.09e-1

DP
type: SiteQuality
SIO_000300: 1.101815e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.24e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.66e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.274e1

GenotypeQuality
all individuals: 348
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1688
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 140
bin: 2.5e0
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GenotypeQuality
all individuals: 3790
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 307
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 615
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 890
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 139
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variant carriers: 0

GenotypeQuality
all individuals: 530
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 359
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 19579
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3793
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 276
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8986
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52456
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6476
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.166403898523721e-5
allele num: 13954
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7804
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4432
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 694
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.69e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.31e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.18e-1

DP
type: SiteQuality
SIO_000300: 9.82902e5

BaseQRankSum
type: SiteQuality
SIO_000300: -2.541e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.8e-3

MQ
type: SiteQuality
SIO_000300: 5.931e1

VQSLOD
type: SiteQuality
SIO_000300: 4.8e-1

QD
type: SiteQuality
SIO_000300: 1.347e1

GenotypeQuality
all individuals: 1632
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3919
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 197
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1791
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1576
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variant carriers: 0

GenotypeQuality
all individuals: 296
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 71
bin: 8.75e1
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GenotypeQuality
all individuals: 18298
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variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8844
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6332
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.546730598198059e-4
allele num: 51722
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 674
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.167316861725184e-4
allele num: 13842
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7674
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4364
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.4e-2

FS
type: SiteQuality
SIO_000300: 7.41e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.62e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.42e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.7e-3

DP
type: SiteQuality
SIO_000300: 9.65899e5

MQRankSum
type: SiteQuality
SIO_000300: -3.4e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.275e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.8e-2

GenotypeQuality
all individuals: 1548
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18700
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3891
bin: 2.75e1
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GenotypeQuality
all individuals: 542
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 360
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 368
bin: 5.75e1
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GenotypeQuality
all individuals: 144
bin: 8.25e1
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GenotypeQuality
all individuals: 291
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GenotypeQuality
all individuals: 24437
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4352
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 674
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.256894049346879e-5
allele num: 13780
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 51562
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7632
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.584283903675539e-4
allele num: 6312
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8804
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.045e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.0e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.42e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.43e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 8.29e-1

DP
type: SiteQuality
SIO_000300: 9.63901e5

FS
type: SiteQuality
SIO_000300: 7.379e0

QD
type: SiteQuality
SIO_000300: 1.173e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.185e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1920
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 255
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4159
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 475
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1803
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25417
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 366
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 17025
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1481
bin: 6.75e1
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GenotypeQuality
all individuals: 137
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4262
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7514
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 676
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6176
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.972386587771203e-5
allele num: 50700
num of homozygotes: 0

South Asian
type: Population
allele count: 8
allele frequency: 5.883218120311811e-4
allele num: 13598
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 9.36552e5

BaseQRankSum
type: SiteQuality
SIO_000300: 9.86e-1

QD
type: SiteQuality
SIO_000300: 1.286e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.7e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.8e0

MQRankSum
type: SiteQuality
SIO_000300: 2.72e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.69e-1

FS
type: SiteQuality
SIO_000300: 5.589e0

GenotypeQuality
all individuals: 91
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15756
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1458
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 616
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4212
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25901
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 8.75e1
variant carriers: 2

GenotypeQuality
all individuals: 244
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 366
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 4341
bin: 2.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13566
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6106
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.985466386054084e-5
allele num: 50366
num of homozygotes: 0

African
type: Population
allele count: 9
allele frequency: 1.208053691275168e-3
allele num: 7450
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4218
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8544
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 664
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.71e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.51e0

QD
type: SiteQuality
SIO_000300: 1.415e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.97e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.356e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.82e-1

DP
type: SiteQuality
SIO_000300: 9.20636e5

GenotypeQuality
all individuals: 26241
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4427
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 699
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4297
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 259
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 361
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 68
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1435
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 590
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2105
bin: 7.5e0
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7434
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50202
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 668
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.64257555847569e-4
allele num: 6088
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.389890629618682e-5
allele num: 13532
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.354048964218456e-4
allele num: 8496
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4204
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.249e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 7.06e-1

DP
type: SiteQuality
SIO_000300: 9.13839e5

VQSLOD
type: SiteQuality
SIO_000300: 1.78e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.9e-3

MQRankSum
type: SiteQuality
SIO_000300: -4.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.74e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.84e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.14e0

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

GenotypeQuality
all individuals: 26495
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4206
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 309
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 283
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1440
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4380
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 362
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 232
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 251
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1752
bin: 3.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 658
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6038
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4156
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8442
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7394
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13498
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 1.201778632375916e-4
allele num: 49926
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.61e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.55e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.8e-2

DP
type: SiteQuality
SIO_000300: 9.12465e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.4e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 6.830000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.8e-2

QD
type: SiteQuality
SIO_000300: 1.278e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.7e-1

GenotypeQuality
all individuals: 367
bin: 5.25e1
variant carriers: 2

GenotypeQuality
all individuals: 1539
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 26890
bin: 2.25e1
variant carriers: 2

GenotypeQuality
all individuals: 1686
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 8.75e1
variant carriers: 3

GenotypeQuality
all individuals: 95
bin: 9.25e1
variant carriers: 6

GenotypeQuality
all individuals: 123
bin: 8.25e1
variant carriers: 2

GenotypeQuality
all individuals: 747
bin: 6.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2910
bin: 3.75e1
variant carriers: 2

GenotypeQuality
all individuals: 175
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 724
bin: 4.25e1
variant carriers: 3

GenotypeQuality
all individuals: 6603
bin: 6.25e1
variant carriers: 2

Latino
type: Population
allele count: 1
allele frequency: 1.326611833377554e-4
allele num: 7538
num of homozygotes: 0

East Asian
type: Population
allele count: 60
allele frequency: 1.146350783339702e-2
allele num: 5234
num of homozygotes: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 598
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 27
allele frequency: 5.978212735807281e-4
allele num: 45164
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3644
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 4.552352048558422e-4
allele num: 6590
num of homozygotes: 0

South Asian
type: Population
allele count: 29
allele frequency: 2.271303258145363e-3
allele num: 12768
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.75e0

VQSLOD
type: SiteQuality
SIO_000300: 1.91e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.01e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

FS
type: SiteQuality
SIO_000300: 4.647e0

QD
type: SiteQuality
SIO_000300: 1.216e1

DP
type: SiteQuality
SIO_000300: 7.78985e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 412
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 499
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5599
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3042
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2250
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 361
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 1809
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 532
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 90
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5022
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 1.135279960038145e-4
allele num: 44042
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.55860349127182e-4
allele num: 6416
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3482
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12628
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7278
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 586
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.35e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.65e-1

DP
type: SiteQuality
SIO_000300: 7.63404e5

VQSLOD
type: SiteQuality
SIO_000300: 1.23e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.22e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.208e0

QD
type: SiteQuality
SIO_000300: 8.76e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.4e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 673
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 400
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26464
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1780
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6451
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 356
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 530
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4882
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44100
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3500
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5032
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 586
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12614
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.552795031055901e-4
allele num: 6440
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.18e-2

DP
type: SiteQuality
SIO_000300: 7.61436e5

BaseQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.78e0

QD
type: SiteQuality
SIO_000300: 1.307e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 89
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 536
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5335
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 564
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2169
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 647
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5847
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 841
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 366
bin: 9.75e1
variant carriers: 11

Latino
type: Population
allele count: 4
allele frequency: 5.689900426742532e-4
allele num: 7030
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 3.226847370119393e-4
allele num: 6198
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4786
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.064516129032258e-5
allele num: 12400
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 1.16784229457654e-4
allele num: 42814
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3358
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 7.42911e5

ClippingRankSum
type: SiteQuality
SIO_000300: -7.31e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.15e0

VQSLOD
type: SiteQuality
SIO_000300: 4.15e0

MQRankSum
type: SiteQuality
SIO_000300: -5.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

QD
type: SiteQuality
SIO_000300: 1.389e1

GenotypeQuality
all individuals: 639
bin: 6.75e1
variant carriers: 3

GenotypeQuality
all individuals: 122
bin: 5.75e1
variant carriers: 5

GenotypeQuality
all individuals: 6595
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 856
bin: 4.25e1
variant carriers: 2

GenotypeQuality
all individuals: 2023
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 495
bin: 9.75e1
variant carriers: 140

GenotypeQuality
all individuals: 5844
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 8.25e1
variant carriers: 6

GenotypeQuality
all individuals: 167
bin: 7.25e1
variant carriers: 4

GenotypeQuality
all individuals: 96
bin: 9.25e1
variant carriers: 7

GenotypeQuality
all individuals: 553
bin: 4.75e1
variant carriers: 3

GenotypeQuality
all individuals: 4938
bin: 6.25e1
variant carriers: 2

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.647601562867768e-4
allele num: 42486
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6162
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3294
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 572
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.613684040664838e-4
allele num: 12394
num of homozygotes: 0

Latino
type: Population
allele count: 30
allele frequency: 4.311583788444955e-3
allele num: 6958
num of homozygotes: 0

East Asian
type: Population
allele count: 109
allele frequency: 2.297639123102867e-2
allele num: 4744
num of homozygotes: 2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.307e1

DP
type: SiteQuality
SIO_000300: 7.3663e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.23e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.8e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.74e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.65e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.67e-1

GenotypeQuality
all individuals: 251
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3364
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5804
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6638
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 360
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 4349
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2553
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 612
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5986
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 548
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3170
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4496
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6678
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 7.263570771391216e-5
allele num: 41302
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12142
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.72e0

MQ
type: SiteQuality
SIO_000300: 5.829e1

DP
type: SiteQuality
SIO_000300: 7.23769e5

ClippingRankSum
type: SiteQuality
SIO_000300: 4.1e-2

QD
type: SiteQuality
SIO_000300: 7.46e0

MQRankSum
type: SiteQuality
SIO_000300: -5.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.12e-1

FS
type: SiteQuality
SIO_000300: 2.85e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.53e-2

GenotypeQuality
all individuals: 612
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 4.25e1
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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: 5.25e1
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2553
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 360
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3170
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4496
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.421190257130405e-5
allele num: 41302
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12142
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 548
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5986
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6678
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 7.23769e5

VQSLOD
type: SiteQuality
SIO_000300: 1.72e0

FS
type: SiteQuality
SIO_000300: 2.85e0

QD
type: SiteQuality
SIO_000300: 7.46e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.53e-2

MQRankSum
type: SiteQuality
SIO_000300: -5.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.58e-1

MQ
type: SiteQuality
SIO_000300: 5.829e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.1e-2

GenotypeQuality
all individuals: 6715
bin: 3.25e1
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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bin: 6.25e1
variant carriers: 0

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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variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
all individuals: 1022
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 498
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 1.565925461948011e-4
allele num: 6386
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 530
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3038
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 39740
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5774
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4154
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11954
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 7.07244e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.48e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.55e-2

VQSLOD
type: SiteQuality
SIO_000300: -3.575e0

QD
type: SiteQuality
SIO_000300: 3.486e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.35e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.13e-1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 1003
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 39924
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6424
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5800
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3076
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4232
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11990
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 534
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.44e-2

VQSLOD
type: SiteQuality
SIO_000300: -5.836e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 7.0401e5

MQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.638e0

QD
type: SiteQuality
SIO_000300: 7.36e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.21e-1

GenotypeQuality
all individuals: 146
bin: 7.25e1
variant carriers: 2

GenotypeQuality
all individuals: 126
bin: 5.75e1
variant carriers: 2

GenotypeQuality
all individuals: 6583
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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: 1

GenotypeQuality
all individuals: 5682
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GenotypeQuality
all individuals: 120
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variant carriers: 5

GenotypeQuality
all individuals: 20297
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variant carriers: 1

GenotypeQuality
all individuals: 5170
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 474
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variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 9.25e1
variant carriers: 2

South Asian
type: Population
allele count: 11
allele frequency: 9.553586937641132e-4
allele num: 11514
num of homozygotes: 0

East Asian
type: Population
allele count: 32
allele frequency: 8.37257980115123e-3
allele num: 3822
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 37208
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 500
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5422
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5852
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2784
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.59e-2

DP
type: SiteQuality
SIO_000300: 6.8383e5

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.95e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.0e0

QD
type: SiteQuality
SIO_000300: 1.188e1

MQRankSum
type: SiteQuality
SIO_000300: 6.7e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 7.215e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

GenotypeQuality
all individuals: 4428
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5671
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 115
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variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 5.75e1
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GenotypeQuality
all individuals: 358
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GenotypeQuality
all individuals: 566
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 394
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GenotypeQuality
all individuals: 5948
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variant carriers: 0

GenotypeQuality
all individuals: 1764
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6805
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.741528676389955e-5
allele num: 36476
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5678
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 482
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5306
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2668
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3672
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11344
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.142e0

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 6.79803e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.73e-2

MQ
type: SiteQuality
SIO_000300: 5.315e1

VQSLOD
type: SiteQuality
SIO_000300: 1.64e0

MQRankSum
type: SiteQuality
SIO_000300: -9.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.07e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.69e-1

QD
type: SiteQuality
SIO_000300: 7.37e0

GenotypeQuality
all individuals: 5948
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4428
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 6602
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GenotypeQuality
all individuals: 394
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GenotypeQuality
all individuals: 3878
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GenotypeQuality
all individuals: 566
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GenotypeQuality
all individuals: 1408
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variant carriers: 0

GenotypeQuality
all individuals: 115
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variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11344
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2668
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5678
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36476
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3672
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5306
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 482
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.69e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.07e0

FS
type: SiteQuality
SIO_000300: 3.142e0

DP
type: SiteQuality
SIO_000300: 6.79803e5

QD
type: SiteQuality
SIO_000300: 7.37e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.73e-2

MQRankSum
type: SiteQuality
SIO_000300: -9.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.64e0

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.315e1

GenotypeQuality
all individuals: 1038
bin: 6.25e1
variant carriers: 9

GenotypeQuality
all individuals: 217
bin: 5.75e1
variant carriers: 13

GenotypeQuality
all individuals: 89
bin: 8.75e1
variant carriers: 26

GenotypeQuality
all individuals: 3864
bin: 3.75e1
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GenotypeQuality
all individuals: 1552
bin: 4.75e1
variant carriers: 10

GenotypeQuality
all individuals: 138
bin: 8.25e1
variant carriers: 27

GenotypeQuality
all individuals: 6244
bin: 7.5e0
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GenotypeQuality
all individuals: 158
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variant carriers: 15

GenotypeQuality
all individuals: 940
bin: 5.25e1
variant carriers: 7

GenotypeQuality
all individuals: 360
bin: 6.75e1
variant carriers: 19

GenotypeQuality
all individuals: 795
bin: 9.75e1
variant carriers: 461

GenotypeQuality
all individuals: 5502
bin: 2.75e1
variant carriers: 9

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2498
num of homozygotes: 0

African
type: Population
allele count: 471
allele frequency: 9.363817097415507e-2
allele num: 5030
num of homozygotes: 27

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 458
num of homozygotes: 0

Latino
type: Population
allele count: 17
allele frequency: 3.246753246753247e-3
allele num: 5236
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 1.454249316502821e-4
allele num: 34382
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.159186664224217e-5
allele num: 10918
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3378
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.188e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.94e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

QD
type: SiteQuality
SIO_000300: 1.516e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.85e0

DP
type: SiteQuality
SIO_000300: 6.74599e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.22e-1

GenotypeQuality
all individuals: 153
bin: 7.25e1
variant carriers: 2

GenotypeQuality
all individuals: 69
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GenotypeQuality
all individuals: 165
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GenotypeQuality
all individuals: 930
bin: 5.25e1
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GenotypeQuality
all individuals: 6851
bin: 3.25e1
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GenotypeQuality
all individuals: 387
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variant carriers: 16

GenotypeQuality
all individuals: 6342
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GenotypeQuality
all individuals: 97
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GenotypeQuality
all individuals: 3911
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GenotypeQuality
all individuals: 1347
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GenotypeQuality
all individuals: 191
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 8.25e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2500
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.159186664224217e-5
allele num: 10918
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3376
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.981767736821245e-4
allele num: 5046
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 450
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.908396946564885e-4
allele num: 5240
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 15
allele frequency: 4.349591138432987e-4
allele num: 34486
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.65e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.39e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.72e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.265e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.71e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.7e-2

DP
type: SiteQuality
SIO_000300: 6.75723e5

GenotypeQuality
all individuals: 1315
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 107
bin: 8.75e1
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
all individuals: 514
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 420
bin: 7.25e1
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GenotypeQuality
all individuals: 3245
bin: 6.25e1
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GenotypeQuality
all individuals: 271
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GenotypeQuality
all individuals: 645
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5447
bin: 1.75e1
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GenotypeQuality
all individuals: 282
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GenotypeQuality
all individuals: 1044
bin: 9.75e1
variant carriers: 33

GenotypeQuality
all individuals: 480
bin: 7.75e1
variant carriers: 3

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 186
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 490
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 764
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7670
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African
type: Population
allele count: 31
allele frequency: 1.08695652173913e-2
allele num: 2852
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9064
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.84283e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 9.44e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.2e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.1e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.6e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.85e-2

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.335e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.219e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
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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
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bin: 5.75e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 486
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2848
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9102
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 3.909304143862392e-4
allele num: 7674
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.18e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.65e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.147e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.02e-1

DP
type: SiteQuality
SIO_000300: 4.84135e5

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.172e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.88e-2

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7698
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2854
num of homozygotes: 0

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 62
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 490
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9086
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.93e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.49e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

QD
type: SiteQuality
SIO_000300: 8.33e0

DP
type: SiteQuality
SIO_000300: 4.85358e5

ClippingRankSum
type: SiteQuality
SIO_000300: 3.61e-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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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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 78
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2890
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 512
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.561475409836066e-4
allele num: 7808
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9314
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 194
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.9e-2

QD
type: SiteQuality
SIO_000300: 1.372e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.81e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.247e-1

MQ
type: SiteQuality
SIO_000300: 5.876e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.22e-1

DP
type: SiteQuality
SIO_000300: 5.16281e5

FS
type: SiteQuality
SIO_000300: 6.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.38e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.81e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2954
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9722
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 200
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7908
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 92
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.854e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 5.42994e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.21e0

MQRankSum
type: SiteQuality
SIO_000300: 8.95e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.633e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.99e-2

QD
type: SiteQuality
SIO_000300: 3.23e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.5e-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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 652
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1074
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 124
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3076
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8014
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 206
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.231e1

FS
type: SiteQuality
SIO_000300: 6.201e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.06e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.32e-2

MQRankSum
type: SiteQuality
SIO_000300: -4.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 5.74901e5

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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bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 670
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3098
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8048
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 126
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 204
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 9.432182607055272e-5
allele num: 10602
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1126
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.209e0

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 4.06e-1

GenotypeQuality
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bin: 9.75e1
variant carriers: 5

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 3098
num of homozygotes: 0

Other
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allele num: 204
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 1126
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 670
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8048
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European (Finnish)
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allele count: 1
allele frequency: 7.936507936507936e-3
allele num: 126
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 3.772873042822109e-4
allele num: 10602
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 8.25e-1

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 670
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 9.432182607055272e-5
allele num: 10602
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 126
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 3098
num of homozygotes: 0

South Asian
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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
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allele num: 204
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.06e-1

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.209e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.939999999999999e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.157e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 count: 0
allele frequency: 0.0e0
allele num: 3370
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: 0
allele frequency: 0.0e0
allele num: 12456
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8250
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 240
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 922
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1488
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.062e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.11e-2

FS
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SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 2.176e1

DP
type: SiteQuality
SIO_000300: 6.36259e5

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 5.25e1
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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bin: 6.75e1
variant carriers: 1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 1456
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 404
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 266
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 16778
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: 1.087e1

InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 9.409999999999999e-1

FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 7.20624e5

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -1.77e-1

MQ
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SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.754e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.95e-1

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 2992
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 4.837461300309598e-5
allele num: 20672
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 4358
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 306
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 598
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 7.79345e5

ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -3.917e0

InbreedingCoeff
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
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SIO_000300: 6.0e1

BaseQRankSum
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QD
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MQRankSum
type: SiteQuality
SIO_000300: -5.88e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.371e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 724
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 4602
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 3342
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2512
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 322
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9182
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.378667133724494e-5
allele num: 22838
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -3.091e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.133e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.23e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.04e0

QD
type: SiteQuality
SIO_000300: 1.56e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -5.05e-1

DP
type: SiteQuality
SIO_000300: 8.11827e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.05e-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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bin: 4.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 344
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4692
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 782
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2724
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 8.39278220730172e-5
allele num: 23830
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 9272
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3520
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.66e0

MQRankSum
type: SiteQuality
SIO_000300: -1.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.14e-2

FS
type: SiteQuality
SIO_000300: 4.151e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

DP
type: SiteQuality
SIO_000300: 8.24539e5

BaseQRankSum
type: SiteQuality
SIO_000300: -2.52e0

QD
type: SiteQuality
SIO_000300: 9.65e0

VQSLOD
type: SiteQuality
SIO_000300: 5.85e-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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bin: 9.75e1
variant carriers: 9

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3714
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 4.276245456489202e-4
allele num: 9354
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2926
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 2.0159664543182e-4
allele num: 24802
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.084201750729471e-4
allele num: 4798
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 2.857142857142857e-3
allele num: 350
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.75e0

DP
type: SiteQuality
SIO_000300: 8.37988e5

MQRankSum
type: SiteQuality
SIO_000300: 1.06e0

FS
type: SiteQuality
SIO_000300: 4.274e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.87e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.06e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.09e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.12e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.96e-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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bin: 1.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4822
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3722
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9372
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2974
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 1.201249299271242e-4
allele num: 24974
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 352
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.29e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.48e-1

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -9.5e-1

DP
type: SiteQuality
SIO_000300: 8.41279e5

VQSLOD
type: SiteQuality
SIO_000300: -1.206e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.01e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 6.74e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 922
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4940
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 362
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 3.856834310398025e-5
allele num: 25928
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: 16
allele frequency: 1.68527491046977e-3
allele num: 9494
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DP
type: SiteQuality
SIO_000300: 8.53626e5

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.124e0

InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -6.63e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4130
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 7.279609812914028e-5
allele num: 27474
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
allele num: 376
num of homozygotes: 0

South Asian
type: Population
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.15e0

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.967e1

FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -9.1e-3

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 382
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 3.57653791130186e-5
allele num: 27960
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1028
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 3536
num of homozygotes: 0

QD
type: SiteQuality
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InbreedingCoeff
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ReadPosRankSum
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DP
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MQ
type: SiteQuality
SIO_000300: 5.885e1

FS
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4214
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3582
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1042
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 3.55897216883764e-5
allele num: 28098
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 5172
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 386
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9708
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.335e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.01e-2

MQRankSum
type: SiteQuality
SIO_000300: 6.45e-1

QD
type: SiteQuality
SIO_000300: 9.59e0

VQSLOD
type: SiteQuality
SIO_000300: 1.68e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.629e0

MQ
type: SiteQuality
SIO_000300: 5.955e1

DP
type: SiteQuality
SIO_000300: 8.63705e5

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 9658
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4180
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 374
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.596863534997482e-5
allele num: 27802
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 3540
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1026
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.46e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

QD
type: SiteQuality
SIO_000300: 1.195e1

MQRankSum
type: SiteQuality
SIO_000300: -4.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.09e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.32e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.61e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 8.5381e5

ClippingRankSum
type: SiteQuality
SIO_000300: -5.8e-1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 972
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4894
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9526
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3826
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 354
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.850596842510589e-5
allele num: 25970
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3250
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.612e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.64e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.0e0

FS
type: SiteQuality
SIO_000300: 3.1e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.866e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.85e-1

QD
type: SiteQuality
SIO_000300: 1.669e1

DP
type: SiteQuality
SIO_000300: 7.95351e5

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 347
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4690
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3548
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2946
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9314
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 2.059647388367112e-4
allele num: 24276
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 336
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 7.45e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.17e-2

FS
type: SiteQuality
SIO_000300: 8.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.54e0

DP
type: SiteQuality
SIO_000300: 7.49204e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 8.169999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.817e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.59e-1

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
all individuals: 1000
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variant carriers: 1

GenotypeQuality
all individuals: 88
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2574
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9018
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4430
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.537616843633724e-5
allele num: 22038
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 740
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3146
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 304
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.0e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 9.330000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.231e0

DP
type: SiteQuality
SIO_000300: 6.9972e5

QD
type: SiteQuality
SIO_000300: 2.851e1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
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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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8142
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1494
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1010
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 176
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13032
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 220
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.47e-1

QD
type: SiteQuality
SIO_000300: 1.939e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.47e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 7.51e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.44e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.47e-1

DP
type: SiteQuality
SIO_000300: 5.6202e5

GenotypeQuality
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variant carriers: 1

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1444
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3328
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 7.885191610156126e-5
allele num: 12682
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 218
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 166
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.0351966873706e-3
allele num: 966
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 7.396449704142012e-4
allele num: 8112
num of homozygotes: 1

QD
type: SiteQuality
SIO_000300: 1.519e1

DP
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -1.231e0

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.263e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.027e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.48e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 362
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 388
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GenotypeQuality
all individuals: 51
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3176
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11464
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.493143854400399e-4
allele num: 8022
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1228
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 204
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 120
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.82e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.439e1

MQ
type: SiteQuality
SIO_000300: 5.931e1

VQSLOD
type: SiteQuality
SIO_000300: 8.3e-1

DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 8.28e-1