12-113822034-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113822034
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113822034
    reference: chr 12
allele count: 1
allele frequency: 8.347245409015026e-6
allele num: 119800
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000280800
  ensembl transcript: ENST00000280800
  gene symbol: PLBD2
  hgvsc: ENST00000280800.3:c.1082C>T
  hgvsp: ENSP00000280800.3:p.Thr361Ile
  variant of: http://identifiers.org/hgnc/27283
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000443463
  ensembl transcript: ENST00000545182
  gene symbol: PLBD2
  hgvsc: ENST00000545182.2:c.1082C>T
  hgvsp: ENSP00000443463.2:p.Thr361Ile
  variant of: http://identifiers.org/hgnc/27283
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18095
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29460
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8736
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 196
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1293
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1238
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2737
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1337
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2868
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 3576
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4208
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33808
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Thr361Ile
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6580
  num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: Latino
reference allele: C
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

12-113822040-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113822040
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113822040
    reference: chr 12
allele count: 1
allele frequency: 8.383916294979712e-6
allele num: 119276
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000280800
  ensembl transcript: ENST00000280800
  gene symbol: PLBD2
  hgvsc: ENST00000280800.3:c.1088C>T
  hgvsp: ENSP00000280800.3:p.Ala363Val
  variant of: http://identifiers.org/hgnc/27283
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000443463
  ensembl transcript: ENST00000545182
  gene symbol: PLBD2
  hgvsc: ENST00000545182.2:c.1088C>T
  hgvsp: ENSP00000443463.2:p.Ala363Val
  variant of: http://identifiers.org/hgnc/27283
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2050
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17931
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 2869
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 234
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genotype quality: GenotypeQuality
  all individuals: 33104
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 3567
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2731
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala363Val
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11544
  num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

12-113822045-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113822045
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113822045
    reference: chr 12
allele count: 1
allele frequency: 8.400537634408602e-6
allele num: 119040
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000443463
  ensembl transcript: ENST00000545182
  gene symbol: PLBD2
  hgvsc: ENST00000545182.2:c.1093A>G
  hgvsp: ENSP00000443463.2:p.Ile365Val
  variant of: http://identifiers.org/hgnc/27283
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000280800
  ensembl transcript: ENST00000280800
  gene symbol: PLBD2
  hgvsc: ENST00000280800.3:c.1093A>G
  hgvsp: ENSP00000280800.3:p.Ile365Val
  variant of: http://identifiers.org/hgnc/27283
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17878
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7460
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2038
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33064
  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 142
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  variant carriers: 0
hgvs: p.Ile365Val
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8604
  num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: A
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD

12-113822062-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113822062
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113822062
    reference: chr 12
allele count: 1
allele frequency: 8.557540905045526e-6
allele num: 116856
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000280800
  ensembl transcript: ENST00000280800
  gene symbol: PLBD2
  hgvsc: ENST00000280800.3:c.1110C>T
  hgvsp: ENST00000280800.3:c.1110C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27283
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000443463
  ensembl transcript: ENST00000545182
  gene symbol: PLBD2
  hgvsc: ENST00000545182.2:c.1110C>T
  hgvsp: ENST00000545182.2:c.1110C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27283
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2020
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2030
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
  all individuals: 179
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1337
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asn370Asn
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6572
  num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD

12-113822065-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113822065
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113822065
    reference: chr 12
allele count: 19
allele frequency: 1.631153311241222e-4
allele num: 116482
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000443463
  ensembl transcript: ENST00000545182
  gene symbol: PLBD2
  hgvsc: ENST00000545182.2:c.1113C>T
  hgvsp: ENST00000545182.2:c.1113C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27283
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000280800
  ensembl transcript: ENST00000280800
  gene symbol: PLBD2
  hgvsc: ENST00000280800.3:c.1113C>T
  hgvsp: ENST00000280800.3:c.1113C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27283
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 1.75e1
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genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2021
  bin: 3.75e1
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genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2787
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2143
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7257
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26992
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16946
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2884
  bin: 9.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2721
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1237
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3531
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3899
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 1336
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4174
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser371Ser
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 3
  allele frequency: 4.608861304000492e-5
  allele num: 65092
  num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP

12-113822070-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113822070
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113822070
    reference: chr 12
allele count: 3
allele frequency: 2.587991718426501e-5
allele num: 115920
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000443463
  ensembl transcript: ENST00000545182
  gene symbol: PLBD2
  hgvsc: ENST00000545182.2:c.1118C>T
  hgvsp: ENSP00000443463.2:p.Thr373Ile
  variant of: http://identifiers.org/hgnc/27283
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000280800
  ensembl transcript: ENST00000280800
  gene symbol: PLBD2
  hgvsc: ENST00000280800.3:c.1118C>T
  hgvsp: ENSP00000280800.3:p.Thr373Met
  variant of: http://identifiers.org/hgnc/27283
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26712
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3089
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7210
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2012
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2869
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 274
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4175
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr373Met
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: DP

12-113822073-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113822073
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113822073
    reference: chr 12
allele count: 1
allele frequency: 8.635131167642436e-6
allele num: 115806
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000280800
  ensembl transcript: ENST00000280800
  gene symbol: PLBD2
  hgvsc: ENST00000280800.3:c.1118+3G>A
  variant of: http://identifiers.org/hgnc/27283
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000443463
  ensembl transcript: ENST00000545182
  gene symbol: PLBD2
  hgvsc: ENST00000545182.2:c.1118+3G>A
  variant of: http://identifiers.org/hgnc/27283
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3161
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16676
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2441
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26632
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1334
  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2719
  bin: 8.25e1
  variant carriers: 0
hgvs: c.1118+3G>A
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 856
  num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum

12-113822081-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113822081
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113822081
    reference: chr 12
allele count: 1
allele frequency: 8.690513435533772e-6
allele num: 115068
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000443463
  ensembl transcript: ENST00000545182
  gene symbol: PLBD2
  hgvsc: ENST00000545182.2:c.1118+11T>G
  variant of: http://identifiers.org/hgnc/27283
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000280800
  ensembl transcript: ENST00000280800
  gene symbol: PLBD2
  hgvsc: ENST00000280800.3:c.1118+11T>G
  variant of: http://identifiers.org/hgnc/27283
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7142
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2714
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  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8578
  num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

12-113822087-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113822087
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113822087
    reference: chr 12
allele count: 2
allele frequency: 1.749628204006649e-5
allele num: 114310
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000443463
  ensembl transcript: ENST00000545182
  gene symbol: PLBD2
  hgvsc: ENST00000545182.2:c.1118+17C>T
  variant of: http://identifiers.org/hgnc/27283
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000280800
  ensembl transcript: ENST00000280800
  gene symbol: PLBD2
  hgvsc: ENST00000280800.3:c.1118+17C>T
  variant of: http://identifiers.org/hgnc/27283
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2003
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2774
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.75e1
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10100
  num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/12-113822088-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113822088
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113822088
    reference: chr 12
allele count: 1
allele frequency: 8.768237934904602e-6
allele num: 114048
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000280800
  ensembl transcript: ENST00000280800
  gene symbol: PLBD2
  hgvsc: ENST00000280800.3:c.1118+18C>A
  variant of: http://identifiers.org/hgnc/27283
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000443463
  ensembl transcript: ENST00000545182
  gene symbol: PLBD2
  hgvsc: ENST00000545182.2:c.1118+18C>A
  variant of: http://identifiers.org/hgnc/27283
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
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genotype depth: GenotypeDepth
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  bin: 4.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 64280
  num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

12-113822088-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113822088
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113822088
    reference: chr 12
allele count: 1
allele frequency: 8.768237934904602e-6
allele num: 114048
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000443463
  ensembl transcript: ENST00000545182
  gene symbol: PLBD2
  hgvsc: ENST00000545182.2:c.1118+18C>G
  variant of: http://identifiers.org/hgnc/27283
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000280800
  ensembl transcript: ENST00000280800
  gene symbol: PLBD2
  hgvsc: ENST00000280800.3:c.1118+18C>G
  variant of: http://identifiers.org/hgnc/27283
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 1.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
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genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 12248
  num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

12-113822090-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113822090
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113822090
    reference: chr 12
allele count: 2
allele frequency: 1.753801364457462e-5
allele num: 114038
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000280800
  ensembl transcript: ENST00000280800
  gene symbol: PLBD2
  hgvsc: ENST00000280800.3:c.1118+20T>C
  variant of: http://identifiers.org/hgnc/27283
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000443463
  ensembl transcript: ENST00000545182
  gene symbol: PLBD2
  hgvsc: ENST00000545182.2:c.1118+20T>C
  variant of: http://identifiers.org/hgnc/27283
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 838
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

12-113822091-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113822091
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113822091
    reference: chr 12
allele count: 1
allele frequency: 8.772391529378739e-6
allele num: 113994
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000280800
  ensembl transcript: ENST00000280800
  gene symbol: PLBD2
  hgvsc: ENST00000280800.3:c.1118+21G>A
  variant of: http://identifiers.org/hgnc/27283
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000443463
  ensembl transcript: ENST00000545182
  gene symbol: PLBD2
  hgvsc: ENST00000545182.2:c.1118+21G>A
  variant of: http://identifiers.org/hgnc/27283
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2003
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 843
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 712
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3493
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1332
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2865
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8158
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4145
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2706
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1229
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 64258
  num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

12-113822094-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113822094
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113822094
    reference: chr 12
allele count: 2
allele frequency: 1.761493746697199e-5
allele num: 113540
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000443463
  ensembl transcript: ENST00000545182
  gene symbol: PLBD2
  hgvsc: ENST00000545182.2:c.1118+24G>C
  variant of: http://identifiers.org/hgnc/27283
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000280800
  ensembl transcript: ENST00000280800
  gene symbol: PLBD2
  hgvsc: ENST00000280800.3:c.1118+24G>C
  variant of: http://identifiers.org/hgnc/27283
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2980
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2002
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25646
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7077
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16055
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3442
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 28165
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 876
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1229
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8105
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4140
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4370
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1331
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 856
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3479
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2706
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2867
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 790
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6554
  num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

12-113822094-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113822094
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113822094
    reference: chr 12
allele count: 2
allele frequency: 1.761493746697199e-5
allele num: 113540
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000280800
  ensembl transcript: ENST00000280800
  gene symbol: PLBD2
  hgvsc: ENST00000280800.3:c.1118+24G>T
  variant of: http://identifiers.org/hgnc/27283
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000443463
  ensembl transcript: ENST00000545182
  gene symbol: PLBD2
  hgvsc: ENST00000545182.2:c.1118+24G>T
  variant of: http://identifiers.org/hgnc/27283
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25646
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2002
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16055
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3442
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7077
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2980
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1229
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4140
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 790
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 876
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2867
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2706
  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8562
  num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: African
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff

12-113822098-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113822098
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113822098
    reference: chr 12
allele count: 1
allele frequency: 8.841576629944652e-6
allele num: 113102
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000280800
  ensembl transcript: ENST00000280800
  gene symbol: PLBD2
  hgvsc: ENST00000280800.3:c.1118+28C>T
  variant of: http://identifiers.org/hgnc/27283
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000443463
  ensembl transcript: ENST00000545182
  gene symbol: PLBD2
  hgvsc: ENST00000545182.2:c.1118+28C>T
  variant of: http://identifiers.org/hgnc/27283
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 25502
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2011
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15942
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3093
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1333
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  variant carriers: 0
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 8.507742045261188e-5
  allele num: 11754
  num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP

12-113822100-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113822100
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113822100
    reference: chr 12
allele count: 1
allele frequency: 8.851750876323337e-6
allele num: 112972
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000280800
  ensembl transcript: ENST00000280800
  gene symbol: PLBD2
  hgvsc: ENST00000280800.3:c.1118+30C>T
  variant of: http://identifiers.org/hgnc/27283
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000443463
  ensembl transcript: ENST00000545182
  gene symbol: PLBD2
  hgvsc: ENST00000545182.2:c.1118+30C>T
  variant of: http://identifiers.org/hgnc/27283
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3370
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15914
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 40
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1994
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genotype depth: GenotypeDepth
  all individuals: 7
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2863
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11652
  num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-113822104-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113822104
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113822104
    reference: chr 12
allele count: 1
allele frequency: 8.891418003343173e-6
allele num: 112468
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000443463
  ensembl transcript: ENST00000545182
  gene symbol: PLBD2
  hgvsc: ENST00000545182.2:c.1118+34C>G
  variant of: http://identifiers.org/hgnc/27283
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000280800
  ensembl transcript: ENST00000280800
  gene symbol: PLBD2
  hgvsc: ENST00000280800.3:c.1118+34C>G
  variant of: http://identifiers.org/hgnc/27283
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7001
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3253
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25003
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15813
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2003
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1646
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3232
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1224
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 876
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3447
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1148
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8038
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2862
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4095
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 918
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4111
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1332
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2688
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11464
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

12-113822107-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113822107
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113822107
    reference: chr 12
allele count: 2
allele frequency: 1.78491744756805e-5
allele num: 112050
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000280800
  ensembl transcript: ENST00000280800
  gene symbol: PLBD2
  hgvsc: ENST00000280800.3:c.1118+37C>T
  variant of: http://identifiers.org/hgnc/27283
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000443463
  ensembl transcript: ENST00000545182
  gene symbol: PLBD2
  hgvsc: ENST00000545182.2:c.1118+37C>T
  variant of: http://identifiers.org/hgnc/27283
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3093
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2013
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2040
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24664
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2864
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 26857
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3921
  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 550
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4116
  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1224
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9924
  num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

12-113822109-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113822109
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113822109
    reference: chr 12
allele count: 1
allele frequency: 8.932559178204556e-6
allele num: 111950
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000280800
  ensembl transcript: ENST00000280800
  gene symbol: PLBD2
  hgvsc: ENST00000280800.3:c.1118+39A>G
  variant of: http://identifiers.org/hgnc/27283
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000443463
  ensembl transcript: ENST00000545182
  gene symbol: PLBD2
  hgvsc: ENST00000545182.2:c.1118+39A>G
  variant of: http://identifiers.org/hgnc/27283
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3470
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2299
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15539
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2009
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24543
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3005
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1319
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3812
  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 495
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 63582
  num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-113822113-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113822113
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113822113
    reference: chr 12
allele count: 10
allele frequency: 8.962982880702697e-5
allele num: 111570
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000443463
  ensembl transcript: ENST00000545182
  gene symbol: PLBD2
  hgvsc: ENST00000545182.2:c.1118+43A>G
  variant of: http://identifiers.org/hgnc/27283
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000280800
  ensembl transcript: ENST00000280800
  gene symbol: PLBD2
  hgvsc: ENST00000280800.3:c.1118+43A>G
  variant of: http://identifiers.org/hgnc/27283
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6965
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 3613
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2873
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2697
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9890
  num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: VQSLOD

http://identifiers.org/exac.variant/12-113822117-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113822117
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113822116
    reference: chr 12
allele count: 1
allele frequency: 8.99830831803621e-6
allele num: 111132
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000443463
  ensembl transcript: ENST00000545182
  gene symbol: PLBD2
  hgvsc: ENST00000545182.2:c.1118+49delC
  variant of: http://identifiers.org/hgnc/27283
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000280800
  ensembl transcript: ENST00000280800
  gene symbol: PLBD2
  hgvsc: ENST00000280800.3:c.1118+49delC
  variant of: http://identifiers.org/hgnc/27283
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14856
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2006
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 63232
  num of homozygotes: 0
population: South Asian
population: African
population: Other
population: Latino
population: East Asian
population: European (Finnish)
reference allele: AC
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

12-113822606-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113822606
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113822606
    reference: chr 12
allele count: 1
allele frequency: 9.19337341644143e-6
allele num: 108774
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000443463
  ensembl transcript: ENST00000545182
  gene symbol: PLBD2
  hgvsc: ENST00000545182.2:c.1119-411G>T
  variant of: http://identifiers.org/hgnc/27283
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000280800
  ensembl transcript: ENST00000280800
  gene symbol: PLBD2
  hgvsc: ENST00000280800.3:c.1119-50G>T
  variant of: http://identifiers.org/hgnc/27283
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 792
  num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
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site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
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12-113822608-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113822608
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113822608
    reference: chr 12
allele count: 1
allele frequency: 9.146954978687595e-6
allele num: 109326
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000280800
  ensembl transcript: ENST00000280800
  gene symbol: PLBD2
  hgvsc: ENST00000280800.3:c.1119-48G>A
  variant of: http://identifiers.org/hgnc/27283
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000443463
  ensembl transcript: ENST00000545182
  gene symbol: PLBD2
  hgvsc: ENST00000545182.2:c.1119-409G>A
  variant of: http://identifiers.org/hgnc/27283
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5244
  num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: DP
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

12-113822612-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113822612
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113822612
    reference: chr 12
allele count: 1
allele frequency: 9.132586896564322e-6
allele num: 109498
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000443463
  ensembl transcript: ENST00000545182
  gene symbol: PLBD2
  hgvsc: ENST00000545182.2:c.1119-405G>A
  variant of: http://identifiers.org/hgnc/27283
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000280800
  ensembl transcript: ENST00000280800
  gene symbol: PLBD2
  hgvsc: ENST00000280800.3:c.1119-44G>A
  variant of: http://identifiers.org/hgnc/27283
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7964
  num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
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site quality: QD

12-113822615-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113822615
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113822615
    reference: chr 12
allele count: 2
allele frequency: 1.824318161087294e-5
allele num: 109630
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000280800
  ensembl transcript: ENST00000280800
  gene symbol: PLBD2
  hgvsc: ENST00000280800.3:c.1119-41G>A
  variant of: http://identifiers.org/hgnc/27283
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000443463
  ensembl transcript: ENST00000545182
  gene symbol: PLBD2
  hgvsc: ENST00000545182.2:c.1119-402G>A
  variant of: http://identifiers.org/hgnc/27283
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 261
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23127
  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 358
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1692
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3358
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6125
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3370
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 804
  num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

12-113822619-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113822619
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113822619
    reference: chr 12
allele count: 1
allele frequency: 9.078529278256922e-6
allele num: 110150
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000443463
  ensembl transcript: ENST00000545182
  gene symbol: PLBD2
  hgvsc: ENST00000545182.2:c.1119-398C>T
  variant of: http://identifiers.org/hgnc/27283
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000280800
  ensembl transcript: ENST00000280800
  gene symbol: PLBD2
  hgvsc: ENST00000280800.3:c.1119-37C>T
  variant of: http://identifiers.org/hgnc/27283
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12840
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 3.75e1
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genotype depth: GenotypeDepth
  all individuals: 5044
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2181
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genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 586
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 701
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9532
  num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ

12-113822630-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113822630
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113822630
    reference: chr 12
allele count: 9
allele frequency: 8.084800574919152e-5
allele num: 111320
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000280800
  ensembl transcript: ENST00000280800
  gene symbol: PLBD2
  hgvsc: ENST00000280800.3:c.1119-26C>T
  variant of: http://identifiers.org/hgnc/27283
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000443463
  ensembl transcript: ENST00000545182
  gene symbol: PLBD2
  hgvsc: ENST00000545182.2:c.1119-387C>T
  variant of: http://identifiers.org/hgnc/27283
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8608
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
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  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2484
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
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  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 5770
  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 36399
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 9
  allele frequency: 1.456216426121287e-4
  allele num: 61804
  num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Latino
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

12-113822641-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113822641
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113822641
    reference: chr 12
allele count: 1
allele frequency: 8.83376618787654e-6
allele num: 113202
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000280800
  ensembl transcript: ENST00000280800
  gene symbol: PLBD2
  hgvsc: ENST00000280800.3:c.1119-15T>C
  variant of: http://identifiers.org/hgnc/27283
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000443463
  ensembl transcript: ENST00000545182
  gene symbol: PLBD2
  hgvsc: ENST00000545182.2:c.1119-376T>C
  variant of: http://identifiers.org/hgnc/27283
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3866
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12609
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 283
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  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10992
  num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

12-113822650-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113822650
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113822650
    reference: chr 12
allele count: 54
allele frequency: 4.691327993327889e-4
allele num: 115106
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000280800
  ensembl transcript: ENST00000280800
  gene symbol: PLBD2
  hgvsc: ENST00000280800.3:c.1119-6C>T
  variant of: http://identifiers.org/hgnc/27283
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000443463
  ensembl transcript: ENST00000545182
  gene symbol: PLBD2
  hgvsc: ENST00000545182.2:c.1119-367C>T
  variant of: http://identifiers.org/hgnc/27283
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2974
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  variant carriers: 10
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3660
  bin: 2.25e1
  variant carriers: 0
hgvs: c.1119-6C>T
num of homozygotes: 1
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 840
  num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

12-113822651-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113822651
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113822651
    reference: chr 12
allele count: 1
allele frequency: 8.66190839165685e-6
allele num: 115448
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000443463
  ensembl transcript: ENST00000545182
  gene symbol: PLBD2
  hgvsc: ENST00000545182.2:c.1119-366G>A
  variant of: http://identifiers.org/hgnc/27283
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000280800
  ensembl transcript: ENST00000280800
  gene symbol: PLBD2
  hgvsc: ENST00000280800.3:c.1119-5G>A
  variant of: http://identifiers.org/hgnc/27283
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35967
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2790
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3032
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2745
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14430
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3500
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1041
  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46193
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 5.25e1
  variant carriers: 0
hgvs: c.1119-5G>A
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11204
  num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum

12-113822652-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113822652
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113822652
    reference: chr 12
allele count: 1
allele frequency: 8.64020460004493e-6
allele num: 115738
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000280800
  ensembl transcript: ENST00000280800
  gene symbol: PLBD2
  hgvsc: ENST00000280800.3:c.1119-4G>T
  variant of: http://identifiers.org/hgnc/27283
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000443463
  ensembl transcript: ENST00000545182
  gene symbol: PLBD2
  hgvsc: ENST00000545182.2:c.1119-365G>T
  variant of: http://identifiers.org/hgnc/27283
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2683
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3004
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 899
  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 707
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 118
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genotype quality: GenotypeQuality
  all individuals: 886
  bin: 7.25e1
  variant carriers: 0
hgvs: c.1119-4G>T
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8446
  num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

12-113822656-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113822656
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113822656
    reference: chr 12
allele count: 1
allele frequency: 8.592541673827119e-6
allele num: 116380
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000280800
  ensembl transcript: ENST00000280800
  gene symbol: PLBD2
  hgvsc: ENST00000280800.3:c.1119G>A
  hgvsp: ENST00000280800.3:c.1119G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27283
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000443463
  ensembl transcript: ENST00000545182
  gene symbol: PLBD2
  hgvsc: ENST00000545182.2:c.1119-361G>A
  variant of: http://identifiers.org/hgnc/27283
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36862
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
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genotype depth: GenotypeDepth
  all individuals: 701
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2380
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
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  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 909
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  variant carriers: 0
hgvs: c.1119G>A
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9950
  num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD

12-113822671-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113822671
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113822671
    reference: chr 12
allele count: 1
allele frequency: 8.516871923280018e-6
allele num: 117414
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000443463
  ensembl transcript: ENST00000545182
  gene symbol: PLBD2
  hgvsc: ENST00000545182.2:c.1119-346G>A
  variant of: http://identifiers.org/hgnc/27283
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000280800
  ensembl transcript: ENST00000280800
  gene symbol: PLBD2
  hgvsc: ENST00000280800.3:c.1134G>A
  hgvsp: ENSP00000280800.3:p.Trp378Ter
  variant of: http://identifiers.org/hgnc/27283
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1894
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
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  variant carriers: 0
hgvs: p.Trp378Ter
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16048
  num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: QD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

12-113822678-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113822678
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113822678
    reference: chr 12
allele count: 1
allele frequency: 8.498631720293032e-6
allele num: 117666
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000443463
  ensembl transcript: ENST00000545182
  gene symbol: PLBD2
  hgvsc: ENST00000545182.2:c.1119-339G>A
  variant of: http://identifiers.org/hgnc/27283
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000280800
  ensembl transcript: ENST00000280800
  gene symbol: PLBD2
  hgvsc: ENST00000280800.3:c.1141G>A
  hgvsp: ENSP00000280800.3:p.Val381Met
  variant of: http://identifiers.org/hgnc/27283
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 37212
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 4953
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 316
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Val381Met
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 1
  allele frequency: 1.172882946281961e-4
  allele num: 8526
  num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/12-113822688-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113822688
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113822688
    reference: chr 12
allele count: 1
allele frequency: 8.50152177239726e-6
allele num: 117626
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000280800
  ensembl transcript: ENST00000280800
  gene symbol: PLBD2
  hgvsc: ENST00000280800.3:c.1151A>C
  hgvsp: ENSP00000280800.3:p.Lys384Thr
  variant of: http://identifiers.org/hgnc/27283
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000443463
  ensembl transcript: ENST00000545182
  gene symbol: PLBD2
  hgvsc: ENST00000545182.2:c.1119-329A>C
  variant of: http://identifiers.org/hgnc/27283
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36874
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genotype depth: GenotypeDepth
  all individuals: 446
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2619
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4963
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Lys384Thr
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5850
  num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS

12-113822691-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113822691
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113822691
    reference: chr 12
allele count: 4
allele frequency: 3.405936547402122e-5
allele num: 117442
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000280800
  ensembl transcript: ENST00000280800
  gene symbol: PLBD2
  hgvsc: ENST00000280800.3:c.1154C>T
  hgvsp: ENSP00000280800.3:p.Ala385Val
  variant of: http://identifiers.org/hgnc/27283
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000443463
  ensembl transcript: ENST00000545182
  gene symbol: PLBD2
  hgvsc: ENST00000545182.2:c.1119-326C>T
  variant of: http://identifiers.org/hgnc/27283
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 545
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 180
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala385Val
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10008
  num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

12-113822692-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113822692
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113822692
    reference: chr 12
allele count: 7
allele frequency: 5.960490463215259e-5
allele num: 117440
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000280800
  ensembl transcript: ENST00000280800
  gene symbol: PLBD2
  hgvsc: ENST00000280800.3:c.1155G>A
  hgvsp: ENST00000280800.3:c.1155G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27283
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000443463
  ensembl transcript: ENST00000545182
  gene symbol: PLBD2
  hgvsc: ENST00000545182.2:c.1119-325G>A
  variant of: http://identifiers.org/hgnc/27283
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36580
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  variant carriers: 2
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
hgvs: p.Ala385Ala
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 6.185822095756526e-5
  allele num: 16166
  num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

12-113822696-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113822696
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113822696
    reference: chr 12
allele count: 6
allele frequency: 5.110906674844117e-5
allele num: 117396
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000280800
  ensembl transcript: ENST00000280800
  gene symbol: PLBD2
  hgvsc: ENST00000280800.3:c.1159A>G
  hgvsp: ENSP00000280800.3:p.Ile387Val
  variant of: http://identifiers.org/hgnc/27283
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000443463
  ensembl transcript: ENST00000545182
  gene symbol: PLBD2
  hgvsc: ENST00000545182.2:c.1119-321A>G
  variant of: http://identifiers.org/hgnc/27283
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1523
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
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genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3213
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
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genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48624
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 123
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 953
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 197
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ile387Val
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 858
  num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

12-113822696-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113822696
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113822696
    reference: chr 12
allele count: 1
allele frequency: 8.518177791406862e-6
allele num: 117396
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000280800
  ensembl transcript: ENST00000280800
  gene symbol: PLBD2
  hgvsc: ENST00000280800.3:c.1159A>T
  hgvsp: ENSP00000280800.3:p.Ile387Phe
  variant of: http://identifiers.org/hgnc/27283
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000443463
  ensembl transcript: ENST00000545182
  gene symbol: PLBD2
  hgvsc: ENST00000545182.2:c.1119-321A>T
  variant of: http://identifiers.org/hgnc/27283
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3213
  bin: 3.25e1
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genotype depth: GenotypeDepth
  all individuals: 548
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genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1523
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
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genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1870
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
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genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36462
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4981
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2841
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 273
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ile387Phe
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11382
  num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: QD

12-113822699-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113822699
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113822699
    reference: chr 12
allele count: 2
allele frequency: 1.706426401829289e-5
allele num: 117204
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000443463
  ensembl transcript: ENST00000545182
  gene symbol: PLBD2
  hgvsc: ENST00000545182.2:c.1119-318C>T
  variant of: http://identifiers.org/hgnc/27283
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000280800
  ensembl transcript: ENST00000280800
  gene symbol: PLBD2
  hgvsc: ENST00000280800.3:c.1162C>T
  hgvsp: ENSP00000280800.3:p.Pro388Ser
  variant of: http://identifiers.org/hgnc/27283
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
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genotype depth: GenotypeDepth
  all individuals: 117
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 553
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 2
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genotype depth: GenotypeDepth
  all individuals: 2
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 93
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hgvs: p.Pro388Ser
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 858
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: QD

12-113822700-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113822700
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113822700
    reference: chr 12
allele count: 3
allele frequency: 2.560120154972607e-5
allele num: 117182
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000280800
  ensembl transcript: ENST00000280800
  gene symbol: PLBD2
  hgvsc: ENST00000280800.3:c.1163C>T
  hgvsp: ENSP00000280800.3:p.Pro388Leu
  variant of: http://identifiers.org/hgnc/27283
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000443463
  ensembl transcript: ENST00000545182
  gene symbol: PLBD2
  hgvsc: ENST00000545182.2:c.1119-317C>T
  variant of: http://identifiers.org/hgnc/27283
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16335
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 937
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  variant carriers: 0
hgvs: p.Pro388Leu
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11358
  num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS

12-113822701-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113822701
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113822701
    reference: chr 12
allele count: 1
allele frequency: 8.533151292772421e-6
allele num: 117190
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000280800
  ensembl transcript: ENST00000280800
  gene symbol: PLBD2
  hgvsc: ENST00000280800.3:c.1164G>A
  hgvsp: ENST00000280800.3:c.1164G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27283
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000443463
  ensembl transcript: ENST00000545182
  gene symbol: PLBD2
  hgvsc: ENST00000545182.2:c.1119-316G>A
  variant of: http://identifiers.org/hgnc/27283
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36220
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 730
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 141
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 2968
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 300
  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Pro388Pro
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11358
  num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS

12-113822702-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113822702
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113822702
    reference: chr 12
allele count: 1
allele frequency: 8.536502082906508e-6
allele num: 117144
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000443463
  ensembl transcript: ENST00000545182
  gene symbol: PLBD2
  hgvsc: ENST00000545182.2:c.1119-315G>C
  variant of: http://identifiers.org/hgnc/27283
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000280800
  ensembl transcript: ENST00000280800
  gene symbol: PLBD2
  hgvsc: ENST00000280800.3:c.1165G>C
  hgvsp: ENSP00000280800.3:p.Gly389Arg
  variant of: http://identifiers.org/hgnc/27283
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3248
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16394
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genotype depth: GenotypeDepth
  all individuals: 48
  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 258
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly389Arg
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 64508
  num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
population: African
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-113822714-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113822714
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113822714
    reference: chr 12
allele count: 1
allele frequency: 8.608222574202878e-6
allele num: 116168
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000443463
  ensembl transcript: ENST00000545182
  gene symbol: PLBD2
  hgvsc: ENST00000545182.2:c.1119-303C>T
  variant of: http://identifiers.org/hgnc/27283
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000280800
  ensembl transcript: ENST00000280800
  gene symbol: PLBD2
  hgvsc: ENST00000280800.3:c.1177C>T
  hgvsp: ENSP00000280800.3:p.Pro393Ser
  variant of: http://identifiers.org/hgnc/27283
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3221
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Pro393Ser
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 842
  num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ

12-113822716-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113822716
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113822716
    reference: chr 12
allele count: 1
allele frequency: 8.641847281274845e-6
allele num: 115716
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000280800
  ensembl transcript: ENST00000280800
  gene symbol: PLBD2
  hgvsc: ENST00000280800.3:c.1179C>T
  hgvsp: ENST00000280800.3:c.1179C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27283
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000443463
  ensembl transcript: ENST00000545182
  gene symbol: PLBD2
  hgvsc: ENST00000545182.2:c.1119-301C>T
  variant of: http://identifiers.org/hgnc/27283
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2561
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Pro393Pro
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 842
  num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: FS

12-113822716-CG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113822716
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113822715
    reference: chr 12
allele count: 1
allele frequency: 8.641847281274845e-6
allele num: 115716
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000280800
  ensembl transcript: ENST00000280800
  gene symbol: PLBD2
  hgvsc: ENST00000280800.3:c.1182delG
  hgvsp: ENSP00000280800.3:p.Ser395AlafsTer49
  variant of: http://identifiers.org/hgnc/27283
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000443463
  ensembl transcript: ENST00000545182
  gene symbol: PLBD2
  hgvsc: ENST00000545182.2:c.1119-298delG
  variant of: http://identifiers.org/hgnc/27283
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2561
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  variant carriers: 0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser395AlafsTer49
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 842
  num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: CG
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD

12-113822717-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113822717
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113822717
    reference: chr 12
allele count: 8
allele frequency: 6.914672935970129e-5
allele num: 115696
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000443463
  ensembl transcript: ENST00000545182
  gene symbol: PLBD2
  hgvsc: ENST00000545182.2:c.1119-300G>A
  variant of: http://identifiers.org/hgnc/27283
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000280800
  ensembl transcript: ENST00000280800
  gene symbol: PLBD2
  hgvsc: ENST00000280800.3:c.1180G>A
  hgvsp: ENSP00000280800.3:p.Gly394Arg
  variant of: http://identifiers.org/hgnc/27283
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2568
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2628
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16393
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3232
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34420
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4443
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4674
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47149
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 867
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly394Arg
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11242
  num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum

12-113822717-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113822717
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113822717
    reference: chr 12
allele count: 2
allele frequency: 1.728668233992532e-5
allele num: 115696
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000280800
  ensembl transcript: ENST00000280800
  gene symbol: PLBD2
  hgvsc: ENST00000280800.3:c.1180G>T
  hgvsp: ENSP00000280800.3:p.Gly394Trp
  variant of: http://identifiers.org/hgnc/27283
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000443463
  ensembl transcript: ENST00000545182
  gene symbol: PLBD2
  hgvsc: ENST00000545182.2:c.1119-300G>T
  variant of: http://identifiers.org/hgnc/27283
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16393
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3232
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34420
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2628
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2568
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4674
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 867
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47149
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4443
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly394Trp
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9774
  num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

12-113822719-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113822719
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113822719
    reference: chr 12
allele count: 1
allele frequency: 8.664460117490079e-6
allele num: 115414
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000443463
  ensembl transcript: ENST00000545182
  gene symbol: PLBD2
  hgvsc: ENST00000545182.2:c.1119-298G>C
  variant of: http://identifiers.org/hgnc/27283
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000280800
  ensembl transcript: ENST00000280800
  gene symbol: PLBD2
  hgvsc: ENST00000280800.3:c.1182G>C
  hgvsp: ENST00000280800.3:c.1182G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/27283
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2884
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16254
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34174
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2731
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3174
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4820
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 46820
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 864
  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 156
  bin: 5.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly394Gly
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 834
  num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum

12-113822723-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113822723
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113822723
    reference: chr 12
allele count: 2
allele frequency: 1.743739973495153e-5
allele num: 114696
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000443463
  ensembl transcript: ENST00000545182
  gene symbol: PLBD2
  hgvsc: ENST00000545182.2:c.1119-294C>T
  variant of: http://identifiers.org/hgnc/27283
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000280800
  ensembl transcript: ENST00000280800
  gene symbol: PLBD2
  hgvsc: ENST00000280800.3:c.1186C>T
  hgvsp: ENSP00000280800.3:p.Arg396Trp
  variant of: http://identifiers.org/hgnc/27283
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3441
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33413
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15923
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 159
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 272
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 503
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 86
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 659
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5570
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg396Trp
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11160
  num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD

12-113822724-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113822724
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113822724
    reference: chr 12
allele count: 59
allele frequency: 5.147982688817535e-4
allele num: 114608
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000443463
  ensembl transcript: ENST00000545182
  gene symbol: PLBD2
  hgvsc: ENST00000545182.2:c.1119-293G>A
  variant of: http://identifiers.org/hgnc/27283
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000280800
  ensembl transcript: ENST00000280800
  gene symbol: PLBD2
  hgvsc: ENST00000280800.3:c.1187G>A
  hgvsp: ENSP00000280800.3:p.Arg396Gln
  variant of: http://identifiers.org/hgnc/27283
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3169
  bin: 3.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
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  bin: 2.25e1
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genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3050
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 4.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3447
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 3.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15930
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 9.75e1
  variant carriers: 59
genotype quality: GenotypeQuality
  all individuals: 45681
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5600
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4561
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 821
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg396Gln
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 830
  num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

12-113822730-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113822730
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113822730
    reference: chr 12
allele count: 1
allele frequency: 8.809796493700996e-6
allele num: 113510
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000443463
  ensembl transcript: ENST00000545182
  gene symbol: PLBD2
  hgvsc: ENST00000545182.2:c.1119-287T>C
  variant of: http://identifiers.org/hgnc/27283
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000280800
  ensembl transcript: ENST00000280800
  gene symbol: PLBD2
  hgvsc: ENST00000280800.3:c.1193T>C
  hgvsp: ENSP00000280800.3:p.Leu398Pro
  variant of: http://identifiers.org/hgnc/27283
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15563
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3078
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4418
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 750
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Leu398Pro
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9532
  num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

12-113822741-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113822741
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113822741
    reference: chr 12
allele count: 1
allele frequency: 9.094381491114789e-6
allele num: 109958
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000280800
  ensembl transcript: ENST00000280800
  gene symbol: PLBD2
  hgvsc: ENST00000280800.3:c.1204G>C
  hgvsp: ENSP00000280800.3:p.Glu402Gln
  variant of: http://identifiers.org/hgnc/27283
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000443463
  ensembl transcript: ENST00000545182
  gene symbol: PLBD2
  hgvsc: ENST00000545182.2:c.1119-276G>C
  variant of: http://identifiers.org/hgnc/27283
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27513
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
hgvs: p.Glu402Gln
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 800
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD

12-113822749-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113822749
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113822749
    reference: chr 12
allele count: 1
allele frequency: 9.77230528681716e-6
allele num: 102330
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000443463
  ensembl transcript: ENST00000545182
  gene symbol: PLBD2
  hgvsc: ENST00000545182.2:c.1119-268C>G
  variant of: http://identifiers.org/hgnc/27283
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000280800
  ensembl transcript: ENST00000280800
  gene symbol: PLBD2
  hgvsc: ENST00000280800.3:c.1212C>G
  hgvsp: ENSP00000280800.3:p.Ile404Met
  variant of: http://identifiers.org/hgnc/27283
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
hgvs: p.Ile404Met
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8114
  num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

12-113822751-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113822751
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113822751
    reference: chr 12
allele count: 2
allele frequency: 1.959631589261219e-5
allele num: 102060
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000280800
  ensembl transcript: ENST00000280800
  gene symbol: PLBD2
  hgvsc: ENST00000280800.3:c.1214C>T
  hgvsp: ENSP00000280800.3:p.Pro405Leu
  variant of: http://identifiers.org/hgnc/27283
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000443463
  ensembl transcript: ENST00000545182
  gene symbol: PLBD2
  hgvsc: ENST00000545182.2:c.1119-266C>T
  variant of: http://identifiers.org/hgnc/27283
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13753
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7985
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
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  bin: 2.25e1
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genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3060
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 3198
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1570
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 78
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 232
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 1035
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 105
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 2629
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 478
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 17719
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 2305
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 116
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 380
  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 607
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro405Leu
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 2
  allele frequency: 3.54295837023915e-5
  allele num: 56450
  num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: Other
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

12-113822752-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113822752
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113822752
    reference: chr 12
allele count: 3
allele frequency: 2.938641172321918e-5
allele num: 102088
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000280800
  ensembl transcript: ENST00000280800
  gene symbol: PLBD2
  hgvsc: ENST00000280800.3:c.1214+1G>A
  variant of: http://identifiers.org/hgnc/27283
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000443463
  ensembl transcript: ENST00000545182
  gene symbol: PLBD2
  hgvsc: ENST00000545182.2:c.1119-265G>A
  variant of: http://identifiers.org/hgnc/27283
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2997
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
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genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 2.5e0
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genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.75e1
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genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2709
  bin: 3.25e1
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genotype depth: GenotypeDepth
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  bin: 2.25e1
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genotype depth: GenotypeDepth
  all individuals: 13829
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 7.5e0
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genotype depth: GenotypeDepth
  all individuals: 381
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
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genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 2639
  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 28465
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2300
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  variant carriers: 0
hgvs: c.1214+1G>A
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9838
  num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ

12-113822752-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113822752
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113822752
    reference: chr 12
allele count: 1
allele frequency: 9.795470574406395e-6
allele num: 102088
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000443463
  ensembl transcript: ENST00000545182
  gene symbol: PLBD2
  hgvsc: ENST00000545182.2:c.1119-265G>T
  variant of: http://identifiers.org/hgnc/27283
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000280800
  ensembl transcript: ENST00000280800
  gene symbol: PLBD2
  hgvsc: ENST00000280800.3:c.1214+1G>T
  variant of: http://identifiers.org/hgnc/27283
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 2.5e0
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
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genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 28465
  bin: 6.25e1
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hgvs: c.1214+1G>T
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4782
  num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum

12-113822755-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113822755
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113822755
    reference: chr 12
allele count: 8
allele frequency: 8.038746759380213e-5
allele num: 99518
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000280800
  ensembl transcript: ENST00000280800
  gene symbol: PLBD2
  hgvsc: ENST00000280800.3:c.1214+4C>T
  variant of: http://identifiers.org/hgnc/27283
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000443463
  ensembl transcript: ENST00000545182
  gene symbol: PLBD2
  hgvsc: ENST00000545182.2:c.1119-262C>T
  variant of: http://identifiers.org/hgnc/27283
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3476
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.25e1
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genotype depth: GenotypeDepth
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  bin: 4.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
hgvs: c.1214+4C>T
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 5
  allele frequency: 9.079353550027238e-5
  allele num: 55070
  num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: DP

12-113822771-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113822771
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113822771
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 86540
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000443463
  ensembl transcript: ENST00000545182
  gene symbol: PLBD2
  hgvsc: ENST00000545182.2:c.1119-246G>A
  variant of: http://identifiers.org/hgnc/27283
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000280800
  ensembl transcript: ENST00000280800
  gene symbol: PLBD2
  hgvsc: ENST00000280800.3:c.1214+20G>A
  variant of: http://identifiers.org/hgnc/27283
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 13128
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 1635
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 225
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 7.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6584
  num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

12-113822797-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113822797
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113822797
    reference: chr 12
allele count: 279
allele frequency: 4.57002457002457e-3
allele num: 61050
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000280800
  ensembl transcript: ENST00000280800
  gene symbol: PLBD2
  hgvsc: ENST00000280800.3:c.1214+46C>T
  variant of: http://identifiers.org/hgnc/27283
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000443463
  ensembl transcript: ENST00000545182
  gene symbol: PLBD2
  hgvsc: ENST00000545182.2:c.1119-220C>T
  variant of: http://identifiers.org/hgnc/27283
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22359
  bin: 7.5e0
  variant carriers: 134
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 3.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 4
genotype depth: GenotypeDepth
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  bin: 8.75e1
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genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 10
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 55
genotype depth: GenotypeDepth
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  variant carriers: 179
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3352
  bin: 2.25e1
  variant carriers: 19
genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 502
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  variant carriers: 283
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 289
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genotype quality: GenotypeQuality
  all individuals: 2613
  bin: 6.25e1
  variant carriers: 14
num of homozygotes: 7
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4360
  num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP

12-113822966-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113822966
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113822966
    reference: chr 12
allele count: 2
allele frequency: 1.672968180145214e-5
allele num: 119548
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000443463
  ensembl transcript: ENST00000545182
  gene symbol: PLBD2
  hgvsc: ENST00000545182.2:c.1119-51C>T
  variant of: http://identifiers.org/hgnc/27283
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000280800
  ensembl transcript: ENST00000280800
  gene symbol: PLBD2
  hgvsc: ENST00000280800.3:c.1215-51C>T
  variant of: http://identifiers.org/hgnc/27283
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
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genotype depth: GenotypeDepth
  all individuals: 295
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16016
  num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

12-113822967-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113822967
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113822967
    reference: chr 12
allele count: 10
allele frequency: 8.3558942478024e-5
allele num: 119676
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000443463
  ensembl transcript: ENST00000545182
  gene symbol: PLBD2
  hgvsc: ENST00000545182.2:c.1119-50A>G
  variant of: http://identifiers.org/hgnc/27283
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000280800
  ensembl transcript: ENST00000280800
  gene symbol: PLBD2
  hgvsc: ENST00000280800.3:c.1215-50A>G
  variant of: http://identifiers.org/hgnc/27283
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3431
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 5
  allele frequency: 7.584031064191239e-5
  allele num: 65928
  num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD

12-113822970-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113822970
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113822970
    reference: chr 12
allele count: 1
allele frequency: 8.348220994106157e-6
allele num: 119786
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000443463
  ensembl transcript: ENST00000545182
  gene symbol: PLBD2
  hgvsc: ENST00000545182.2:c.1119-47A>T
  variant of: http://identifiers.org/hgnc/27283
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000280800
  ensembl transcript: ENST00000280800
  gene symbol: PLBD2
  hgvsc: ENST00000280800.3:c.1215-47A>T
  variant of: http://identifiers.org/hgnc/27283
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16064
  num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD

12-113822977-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113822977
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113822977
    reference: chr 12
allele count: 2
allele frequency: 1.667194611627015e-5
allele num: 119962
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000280800
  ensembl transcript: ENST00000280800
  gene symbol: PLBD2
  hgvsc: ENST00000280800.3:c.1215-40T>C
  variant of: http://identifiers.org/hgnc/27283
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000443463
  ensembl transcript: ENST00000545182
  gene symbol: PLBD2
  hgvsc: ENST00000545182.2:c.1119-40T>C
  variant of: http://identifiers.org/hgnc/27283
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2006
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3237
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9005
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2842
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16607
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17347
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3876
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7518
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3129
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24908
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3776
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 911
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2597
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 745
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1018
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1294
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8173
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1597
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1199
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1203
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 894
  num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: QD

12-113822986-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113822986
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113822986
    reference: chr 12
allele count: 1
allele frequency: 8.312137383006666e-6
allele num: 120306
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000280800
  ensembl transcript: ENST00000280800
  gene symbol: PLBD2
  hgvsc: ENST00000280800.3:c.1215-31A>G
  variant of: http://identifiers.org/hgnc/27283
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000443463
  ensembl transcript: ENST00000545182
  gene symbol: PLBD2
  hgvsc: ENST00000545182.2:c.1119-31A>G
  variant of: http://identifiers.org/hgnc/27283
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17606
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2010
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3896
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9238
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19293
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3797
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2618
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 810
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8443
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3181
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28018
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 802
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 782
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7518
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 1204
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1593
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66250
  num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

12-113822991-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113822991
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113822991
    reference: chr 12
allele count: 1
allele frequency: 8.29737802854298e-6
allele num: 120520
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000280800
  ensembl transcript: ENST00000280800
  gene symbol: PLBD2
  hgvsc: ENST00000280800.3:c.1215-26C>T
  variant of: http://identifiers.org/hgnc/27283
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000443463
  ensembl transcript: ENST00000545182
  gene symbol: PLBD2
  hgvsc: ENST00000545182.2:c.1119-26C>T
  variant of: http://identifiers.org/hgnc/27283
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3905
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2016
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19700
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9423
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8542
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3200
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1595
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 251
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 287
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 7520
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 2624
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 515
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66350
  num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/12-113822996-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113822996
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113822996
    reference: chr 12
allele count: 1
allele frequency: 8.281162012653616e-6
allele num: 120756
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000280800
  ensembl transcript: ENST00000280800
  gene symbol: PLBD2
  hgvsc: ENST00000280800.3:c.1215-21C>A
  variant of: http://identifiers.org/hgnc/27283
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000443463
  ensembl transcript: ENST00000545182
  gene symbol: PLBD2
  hgvsc: ENST00000545182.2:c.1119-21C>A
  variant of: http://identifiers.org/hgnc/27283
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2025
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 9482
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 9.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.75e1
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genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 7530
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 138
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 902
  num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

12-113822996-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113822996
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113822996
    reference: chr 12
allele count: 11
allele frequency: 9.109278213918977e-5
allele num: 120756
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000280800
  ensembl transcript: ENST00000280800
  gene symbol: PLBD2
  hgvsc: ENST00000280800.3:c.1215-21C>G
  variant of: http://identifiers.org/hgnc/27283
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000443463
  ensembl transcript: ENST00000545182
  gene symbol: PLBD2
  hgvsc: ENST00000545182.2:c.1119-21C>G
  variant of: http://identifiers.org/hgnc/27283
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18660
  bin: 2.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20011
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1207
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3796
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30125
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 7530
  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 3220
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8652
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

12-113823008-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113823008
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113823008
    reference: chr 12
allele count: 4
allele frequency: 3.305184181388508e-5
allele num: 121022
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000443463
  ensembl transcript: ENST00000545182
  gene symbol: PLBD2
  hgvsc: ENST00000545182.2:c.1119-9C>T
  variant of: http://identifiers.org/hgnc/27283
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000280800
  ensembl transcript: ENST00000280800
  gene symbol: PLBD2
  hgvsc: ENST00000280800.3:c.1215-9C>T
  variant of: http://identifiers.org/hgnc/27283
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9613
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19041
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3916
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 9.25e1
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genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
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genotype depth: GenotypeDepth
  all individuals: 327
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2023
  bin: 4.25e1
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genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3244
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 158
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genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 30989
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 1207
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 2629
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 93
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 1600
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 7522
  bin: 9.75e1
  variant carriers: 4
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.502268425322237e-5
  allele num: 66566
  num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

12-113823010-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113823010
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113823010
    reference: chr 12
allele count: 3
allele frequency: 2.477782549803429e-5
allele num: 121076
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000280800
  ensembl transcript: ENST00000280800
  gene symbol: PLBD2
  hgvsc: ENST00000280800.3:c.1215-7G>A
  variant of: http://identifiers.org/hgnc/27283
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000443463
  ensembl transcript: ENST00000545182
  gene symbol: PLBD2
  hgvsc: ENST00000545182.2:c.1119-7G>A
  variant of: http://identifiers.org/hgnc/27283
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19138
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7523
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1601
  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: c.1215-7G>A
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 906
  num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/12-113823012-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113823012
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113823012
    reference: chr 12
allele count: 5
allele frequency: 4.128410066715107e-5
allele num: 121112
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000443463
  ensembl transcript: ENST00000545182
  gene symbol: PLBD2
  hgvsc: ENST00000545182.2:c.1119-5C>A
  variant of: http://identifiers.org/hgnc/27283
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000280800
  ensembl transcript: ENST00000280800
  gene symbol: PLBD2
  hgvsc: ENST00000280800.3:c.1215-5C>A
  variant of: http://identifiers.org/hgnc/27283
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19998
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 857
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 432
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 841
  bin: 5.25e1
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genotype depth: GenotypeDepth
  all individuals: 535
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8669
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1184
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  variant carriers: 0
hgvs: c.1215-5C>A
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8652
  num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: African
population: Latino
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

12-113823012-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113823012
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113823012
    reference: chr 12
allele count: 878
allele frequency: 7.249488077151727e-3
allele num: 121112
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000280800
  ensembl transcript: ENST00000280800
  gene symbol: PLBD2
  hgvsc: ENST00000280800.3:c.1215-5C>G
  variant of: http://identifiers.org/hgnc/27283
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000443463
  ensembl transcript: ENST00000545182
  gene symbol: PLBD2
  hgvsc: ENST00000545182.2:c.1119-5C>G
  variant of: http://identifiers.org/hgnc/27283
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 8.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 3921
  bin: 3.75e1
  variant carriers: 71
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 6.25e1
  variant carriers: 68
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.75e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 5.75e1
  variant carriers: 77
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9534
  bin: 3.25e1
  variant carriers: 57
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 4.75e1
  variant carriers: 103
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 100
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 2088
  bin: 4.25e1
  variant carriers: 90
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 66
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 8.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 9.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 7.25e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 19046
  bin: 2.75e1
  variant carriers: 38
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2571
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8669
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8266
  bin: 9.75e1
  variant carriers: 868
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3200
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1560
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3745
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30917
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1184
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
hgvs: c.1215-5C>G
num of homozygotes: 6
population: Latino
  type: Population
  allele count: 79
  allele frequency: 6.831546177793151e-3
  allele num: 11564
  num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum

12-113823017-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113823017
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113823017
    reference: chr 12
allele count: 4
allele frequency: 3.301092661671013e-5
allele num: 121172
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000443463
  ensembl transcript: ENST00000545182
  gene symbol: PLBD2
  hgvsc: ENST00000545182.2:c.1119C>T
  hgvsp: ENST00000545182.2:c.1119C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27283
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000280800
  ensembl transcript: ENST00000280800
  gene symbol: PLBD2
  hgvsc: ENST00000280800.3:c.1215C>T
  hgvsp: ENST00000280800.3:c.1215C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27283
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2031
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20076
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9747
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3916
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19479
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2612
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8857
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 137
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 31457
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 1200
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genotype quality: GenotypeQuality
  all individuals: 3268
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 7483
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1580
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3801
  bin: 7.75e1
  variant carriers: 0
hgvs: c.1215C>T
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum

12-113823018-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113823018
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113823018
    reference: chr 12
allele count: 1
allele frequency: 8.251097395953662e-6
allele num: 121196
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000443463
  ensembl transcript: ENST00000545182
  gene symbol: PLBD2
  hgvsc: ENST00000545182.2:c.1120G>A
  hgvsp: ENSP00000443463.2:p.Gly374Ser
  variant of: http://identifiers.org/hgnc/27283
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000280800
  ensembl transcript: ENST00000280800
  gene symbol: PLBD2
  hgvsc: ENST00000280800.3:c.1216G>A
  hgvsp: ENSP00000280800.3:p.Gly406Ser
  variant of: http://identifiers.org/hgnc/27283
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19509
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2024
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9749
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3910
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3273
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8873
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31525
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2612
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1202
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 3802
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7482
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Gly406Ser
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP

12-113823026-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113823026
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113823026
    reference: chr 12
allele count: 1
allele frequency: 8.248375070111188e-6
allele num: 121236
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000443463
  ensembl transcript: ENST00000545182
  gene symbol: PLBD2
  hgvsc: ENST00000545182.2:c.1128G>A
  hgvsp: ENST00000545182.2:c.1128G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27283
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000280800
  ensembl transcript: ENST00000280800
  gene symbol: PLBD2
  hgvsc: ENST00000280800.3:c.1224G>A
  hgvsp: ENST00000280800.3:c.1224G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27283
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19616
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2024
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3911
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31600
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Val408Val
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 906
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: QD

12-113823036-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113823036
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 113823036
    reference: chr 12
allele count: 1
allele frequency: 8.245246615326264e-6
allele num: 121282
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000443463
  ensembl transcript: ENST00000545182
  gene symbol: PLBD2
  hgvsc: ENST00000545182.2:c.1138G>A
  hgvsp: ENSP00000443463.2:p.Asp380Asn
  variant of: http://identifiers.org/hgnc/27283
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151176
  ensembl protein: ENSP00000280800
  ensembl transcript: ENST00000280800
  gene symbol: PLBD2
  hgvsc: ENST00000280800.3:c.1234G>A
  hgvsp: ENSP00000280800.3:p.Asp412Asn
  variant of: http://identifiers.org/hgnc/27283
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3916
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19989
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9774
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
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genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7483
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3796
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1583
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8904
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1199
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asp412Asn
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11566
  num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66078
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15762
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.680542110358181e-5
allele num: 10330
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.540837e6

MQ
type: SiteQuality
SIO_000300: 5.958e1

MQRankSum
type: SiteQuality
SIO_000300: -5.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.77e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.23e-1

FS
type: SiteQuality
SIO_000300: 7.83e-1

QD
type: SiteQuality
SIO_000300: 1.205e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.528e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.49e-1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15432
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65922
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.133786848072562e-3
allele num: 882
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10314
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.98e0

MQ
type: SiteQuality
SIO_000300: 5.554e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.055e0

MQRankSum
type: SiteQuality
SIO_000300: -1.027e0

DP
type: SiteQuality
SIO_000300: 1.532189e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.8e-1

QD
type: SiteQuality
SIO_000300: 9.890000000000001e0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.518326197200206e-5
allele num: 65862
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10306
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15270
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.527739e6

FS
type: SiteQuality
SIO_000300: 4.718e0

VQSLOD
type: SiteQuality
SIO_000300: -1.266e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 6.26e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.91e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

QD
type: SiteQuality
SIO_000300: 5.85e0

South Asian
type: Population
allele count: 1
allele frequency: 7.210845111047014e-5
allele num: 13868
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65234
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 3.32e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

MQ
type: SiteQuality
SIO_000300: 5.961e1

MQRankSum
type: SiteQuality
SIO_000300: -7.67e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.101e0

FS
type: SiteQuality
SIO_000300: 2.281e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.595e0

DP
type: SiteQuality
SIO_000300: 1.491276e6

QD
type: SiteQuality
SIO_000300: 1.121e1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11498
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

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

African
type: Population
allele count: 5
allele frequency: 4.894283476898982e-4
allele num: 10216
num of homozygotes: 0

South Asian
type: Population
allele count: 11
allele frequency: 8.055067369654365e-4
allele num: 13656
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

MQ
type: SiteQuality
SIO_000300: 5.961e1

VQSLOD
type: SiteQuality
SIO_000300: 1.8e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.01e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.5e-2

FS
type: SiteQuality
SIO_000300: 5.55e-1

QD
type: SiteQuality
SIO_000300: 1.114e1

DP
type: SiteQuality
SIO_000300: 1.487192e6

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13326
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.700191404210893e-5
allele num: 11494
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.081569135003544e-5
allele num: 64902
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10188
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.31e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.38e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.3e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -5.760999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.94e-1

QD
type: SiteQuality
SIO_000300: 9.279999999999999e0

MQ
type: SiteQuality
SIO_000300: 5.929e1

DP
type: SiteQuality
SIO_000300: 1.477816e6

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10182
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11492
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8580
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13254
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.541449579184265e-5
allele num: 64874
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.07e-1

FS
type: SiteQuality
SIO_000300: 9.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

QD
type: SiteQuality
SIO_000300: 1.34e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.085e0

MQ
type: SiteQuality
SIO_000300: 5.971e1

DP
type: SiteQuality
SIO_000300: 1.474429e6

VQSLOD
type: SiteQuality
SIO_000300: 4.6e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.38e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.093e0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10136
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.547077570469383e-5
allele num: 64638
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12816
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11486
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 7.2e-1

QD
type: SiteQuality
SIO_000300: 1.266e1

MQRankSum
type: SiteQuality
SIO_000300: -5.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.41e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.9e-2

DP
type: SiteQuality
SIO_000300: 1.464343e6

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12402
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11482
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.107520198881293e-5
allele num: 64360
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6560
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.84e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.542e-1

QD
type: SiteQuality
SIO_000300: 9.369999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

FS
type: SiteQuality
SIO_000300: 4.887e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e0

MQRankSum
type: SiteQuality
SIO_000300: -6.41e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.457802e6

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10088
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.168770453482936e-4
allele num: 8556
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12248
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6556
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.454332e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.17e0

FS
type: SiteQuality
SIO_000300: 3.005e0

QD
type: SiteQuality
SIO_000300: 8.49e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.23e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.21e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.94e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.01e-1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10088
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8556
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.555693839452396e-5
allele num: 64280
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6556
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.005e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.23e-1

QD
type: SiteQuality
SIO_000300: 8.49e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.17e0

VQSLOD
type: SiteQuality
SIO_000300: 3.94e-1

DP
type: SiteQuality
SIO_000300: 1.454332e6

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

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

African
type: Population
allele count: 1
allele frequency: 9.906875371507826e-5
allele num: 10094
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12226
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8564
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.55574224462491e-5
allele num: 64278
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.031e1

MQ
type: SiteQuality
SIO_000300: 5.977e1

MQRankSum
type: SiteQuality
SIO_000300: 5.38e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.73e0

QD
type: SiteQuality
SIO_000300: 9.970000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.8e-2

DP
type: SiteQuality
SIO_000300: 1.453954e6

VQSLOD
type: SiteQuality
SIO_000300: -7.89e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.74e-1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.167406023815083e-4
allele num: 8566
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10094
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12202
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 6.15e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.13e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.72e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.242e0

DP
type: SiteQuality
SIO_000300: 1.452797e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.777e0

VQSLOD
type: SiteQuality
SIO_000300: 6.860000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.321e1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.559575795383656e-5
allele num: 64120
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11474
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11952
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8562
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.956192751891676e-5
allele num: 10044
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.09e-1

FS
type: SiteQuality
SIO_000300: 9.541e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.29e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.171e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

DP
type: SiteQuality
SIO_000300: 1.447682e6

MQ
type: SiteQuality
SIO_000300: 5.92e1

MQRankSum
type: SiteQuality
SIO_000300: -1.91e-1

QD
type: SiteQuality
SIO_000300: 9.529999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.119151590767312e-5
allele num: 64120
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11474
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11952
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10044
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MQ
type: SiteQuality
SIO_000300: 5.92e1

VQSLOD
type: SiteQuality
SIO_000300: -1.171e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.09e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.29e-1

QD
type: SiteQuality
SIO_000300: 9.529999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

FS
type: SiteQuality
SIO_000300: 9.541e0

MQRankSum
type: SiteQuality
SIO_000300: -1.91e-1

DP
type: SiteQuality
SIO_000300: 1.447682e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10008
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11468
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6540
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63938
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FS
type: SiteQuality
SIO_000300: 1.126e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.48e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.42e0

VQSLOD
type: SiteQuality
SIO_000300: -2.676e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 6.08e-1

MQ
type: SiteQuality
SIO_000300: 5.808e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.014e0

QD
type: SiteQuality
SIO_000300: 8.460000000000001e0

DP
type: SiteQuality
SIO_000300: 1.44358e6

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10004
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6550
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Latino
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8554
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.564553476437825e-5
allele num: 63916
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Other
type: Population
allele count: 0
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allele num: 834
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DP
type: SiteQuality
SIO_000300: 1.440866e6

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -1.055e-1

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.923e1

FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.086e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.002e0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63760
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 9976
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6538
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 832
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South Asian
type: Population
allele count: 0
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allele num: 11344
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East Asian
type: Population
allele count: 1
allele frequency: 1.169043722235212e-4
allele num: 8554
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MQ
type: SiteQuality
SIO_000300: 5.646e1

MQRankSum
type: SiteQuality
SIO_000300: 2.24e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

FS
type: SiteQuality
SIO_000300: 1.582e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.8e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.786e0

QD
type: SiteQuality
SIO_000300: 1.111e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.299e0

DP
type: SiteQuality
SIO_000300: 1.435302e6

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 830
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Latino
type: Population
allele count: 2
allele frequency: 1.746419839329375e-4
allele num: 11452
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6542
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South Asian
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allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8548
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63602
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.528e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.430771e6

VQSLOD
type: SiteQuality
SIO_000300: -1.191e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

MQ
type: SiteQuality
SIO_000300: 5.942e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.01e-1

QD
type: SiteQuality
SIO_000300: 3.002e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.44e-1

African
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allele count: 1
allele frequency: 1.009081735620585e-4
allele num: 9910
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6544
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 828
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11082
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Latino
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allele count: 0
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allele num: 11454
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8550
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InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

DP
type: SiteQuality
SIO_000300: 1.427299e6

MQRankSum
type: SiteQuality
SIO_000300: -5.12e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.635e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.096e-1

QD
type: SiteQuality
SIO_000300: 1.195e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.54e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.098e0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63410
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Latino
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allele count: 0
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South Asian
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allele count: 0
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East Asian
type: Population
allele count: 10
allele frequency: 1.17096018735363e-3
allele num: 8540
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6542
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.957e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.56e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

FS
type: SiteQuality
SIO_000300: 7.77e-1

DP
type: SiteQuality
SIO_000300: 1.421913e6

QD
type: SiteQuality
SIO_000300: 1.24e1

VQSLOD
type: SiteQuality
SIO_000300: 1.37e0

South Asian
type: Population
allele count: 0
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African
type: Population
allele count: 0
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Other
type: Population
allele count: 0
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allele num: 816
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11440
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.17096018735363e-4
allele num: 8540
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6518
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QD
type: SiteQuality
SIO_000300: 1.84e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

FS
type: SiteQuality
SIO_000300: 2.879e0

VQSLOD
type: SiteQuality
SIO_000300: 1.59e0

MQ
type: SiteQuality
SIO_000300: 6.048e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.75e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.29e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.529e0

DP
type: SiteQuality
SIO_000300: 1.41925e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.870000000000001e-1

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.909854851031322e-4
allele num: 5236
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9402
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60434
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Latino
type: Population
allele count: 0
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East Asian
type: Population
allele count: 0
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South Asian
type: Population
allele count: 0
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MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.84e0

VQSLOD
type: SiteQuality
SIO_000300: -8.986e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.21e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.936e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.092731e6

QD
type: SiteQuality
SIO_000300: 1.104e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.63e-1

South Asian
type: Population
allele count: 1
allele frequency: 6.868131868131868e-5
allele num: 14560
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East Asian
type: Population
allele count: 0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10540
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60766
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
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allele num: 804
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DP
type: SiteQuality
SIO_000300: 1.097323e6

MQ
type: SiteQuality
SIO_000300: 5.922e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.186e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.614e0

MQRankSum
type: SiteQuality
SIO_000300: -7.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.17e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

QD
type: SiteQuality
SIO_000300: 7.85e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.76e-1

African
type: Population
allele count: 1
allele frequency: 1.056189269117026e-4
allele num: 9468
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14582
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5258
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 798
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60854
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ReadPosRankSum
type: SiteQuality
SIO_000300: -6.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.109666e6

VQSLOD
type: SiteQuality
SIO_000300: 3.3e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.2e-1

FS
type: SiteQuality
SIO_000300: 6.597e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.6e-1

QD
type: SiteQuality
SIO_000300: 1.065e1

South Asian
type: Population
allele count: 0
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Latino
type: Population
allele count: 2
allele frequency: 1.892505677517033e-4
allele num: 10568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60934
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 9472
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
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FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
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ReadPosRankSum
type: SiteQuality
SIO_000300: -4.65e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.6e-1

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.2e1

Latino
type: Population
allele count: 0
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num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 808
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61172
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South Asian
type: Population
allele count: 1
allele frequency: 6.810133478616181e-5
allele num: 14684
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
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ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

DP
type: SiteQuality
SIO_000300: 1.162688e6

VQSLOD
type: SiteQuality
SIO_000300: -7.899e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.4e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

FS
type: SiteQuality
SIO_000300: 3.68e0

QD
type: SiteQuality
SIO_000300: 6.57e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

Other
type: Population
allele count: 0
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South Asian
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East Asian
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African
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allele frequency: 0.0e0
allele num: 9556
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Latino
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DP
type: SiteQuality
SIO_000300: 1.242569e6

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 4.88e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 5.33e-1

QD
type: SiteQuality
SIO_000300: 1.109e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.97e-1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8296
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.593879502709595e-5
allele num: 62740
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Other
type: Population
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allele num: 830
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VQSLOD
type: SiteQuality
SIO_000300: 6.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.854e0

MQRankSum
type: SiteQuality
SIO_000300: -2.23e-1

DP
type: SiteQuality
SIO_000300: 1.30802e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.45e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.45e-1

QD
type: SiteQuality
SIO_000300: 9.69e0

South Asian
type: Population
allele count: 0
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African
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allele count: 46
allele frequency: 4.665314401622718e-3
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.572079861656972e-5
allele num: 63610
num of homozygotes: 0

Latino
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allele count: 5
allele frequency: 4.471472008585226e-4
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num of homozygotes: 0

East Asian
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allele count: 2
allele frequency: 2.372479240806643e-4
allele num: 8430
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

FS
type: SiteQuality
SIO_000300: 1.174e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.74e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.52e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.21e0

QD
type: SiteQuality
SIO_000300: 1.269e1

MQ
type: SiteQuality
SIO_000300: 5.949e1

DP
type: SiteQuality
SIO_000300: 1.361051e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.43e-1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.567594682718836e-5
allele num: 63792
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15570
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8438
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9878
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5718
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.376e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.024e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.94e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.61e-1

QD
type: SiteQuality
SIO_000300: 6.45e0

FS
type: SiteQuality
SIO_000300: 1.073e0

DP
type: SiteQuality
SIO_000300: 1.366874e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.199999999999999e-2

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9894
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63952
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11230
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5738
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.39877143588431e-5
allele num: 15628
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
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MQRankSum
type: SiteQuality
SIO_000300: 1.28e0

QD
type: SiteQuality
SIO_000300: 1.237e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.963e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.177e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.88e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.154e0

VQSLOD
type: SiteQuality
SIO_000300: 2.49e-1

DP
type: SiteQuality
SIO_000300: 1.371828e6

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11288
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.331518298087882e-5
allele num: 15794
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5790
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8474
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64228
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.14e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.13e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.28e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.75e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.79e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.383954e6

QD
type: SiteQuality
SIO_000300: 9.33e0

East Asian
type: Population
allele count: 1
allele frequency: 1.17426021606388e-4
allele num: 8516
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10014
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64760
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5842
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.404e1

DP
type: SiteQuality
SIO_000300: 1.40412e6

MQ
type: SiteQuality
SIO_000300: 5.952e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: -8.22e-1

FS
type: SiteQuality
SIO_000300: 1.7356e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.057e0

VQSLOD
type: SiteQuality
SIO_000300: -2.605e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.44e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.906e0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5866
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16130
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10026
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64882
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11374
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.64e0

DP
type: SiteQuality
SIO_000300: 1.410152e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.43e0

QD
type: SiteQuality
SIO_000300: 1.271e1

VQSLOD
type: SiteQuality
SIO_000300: -3.548e-1

FS
type: SiteQuality
SIO_000300: 7.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.014e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.32e0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11388
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16166
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.543257507947776e-5
allele num: 64798
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 7.55e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.89e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.410309e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -6.36e-1

QD
type: SiteQuality
SIO_000300: 1.317e1

VQSLOD
type: SiteQuality
SIO_000300: 7.4e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8524
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16158
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11382
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.185056902523504e-5
allele num: 64672
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5836
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 7.35e0

MQRankSum
type: SiteQuality
SIO_000300: 4.48e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.06e-1

FS
type: SiteQuality
SIO_000300: 5.303e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.92e-1

DP
type: SiteQuality
SIO_000300: 1.407652e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.71e-1

Latino
type: Population
allele count: 6
allele frequency: 5.270555165144061e-4
allele num: 11384
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10002
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5836
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64662
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.58e0

QD
type: SiteQuality
SIO_000300: 1.151e1

MQRankSum
type: SiteQuality
SIO_000300: 6.02e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.79e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.08e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

DP
type: SiteQuality
SIO_000300: 1.407843e6

MQ
type: SiteQuality
SIO_000300: 5.973e1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11382
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9996
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 3.711493257453916e-4
allele num: 16166
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5832
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64636
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8526
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.65e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.52e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.46e-1

QD
type: SiteQuality
SIO_000300: 1.246e1

MQRankSum
type: SiteQuality
SIO_000300: 3.02e-1

FS
type: SiteQuality
SIO_000300: 3.087e0

DP
type: SiteQuality
SIO_000300: 1.406506e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

MQ
type: SiteQuality
SIO_000300: 5.913e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e-1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5832
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8526
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9996
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16166
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.547125440930751e-5
allele num: 64636
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 3.087e0

MQRankSum
type: SiteQuality
SIO_000300: 3.02e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.65e-1

MQ
type: SiteQuality
SIO_000300: 5.913e1

DP
type: SiteQuality
SIO_000300: 1.406506e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.52e-1

QD
type: SiteQuality
SIO_000300: 1.246e1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64532
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9950
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.437607425232039e-4
allele num: 5818
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11368
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16156
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.56e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.69e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 8.110000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.4e-2

DP
type: SiteQuality
SIO_000300: 1.40527e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.016e1

South Asian
type: Population
allele count: 1
allele frequency: 6.19041723412158e-5
allele num: 16154
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5814
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.549762886278399e-5
allele num: 64526
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.82e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.45e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.4e-2

MQ
type: SiteQuality
SIO_000300: 5.868e1

DP
type: SiteQuality
SIO_000300: 1.406005e6

MQRankSum
type: SiteQuality
SIO_000300: 4.03e-1

QD
type: SiteQuality
SIO_000300: 1.262e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.94e-1

FS
type: SiteQuality
SIO_000300: 1.772e0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9944
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.549474728067185e-5
allele num: 64538
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5816
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16156
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8518
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.82e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.82e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.98e-1

QD
type: SiteQuality
SIO_000300: 1.339e1

VQSLOD
type: SiteQuality
SIO_000300: 1.59e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

DP
type: SiteQuality
SIO_000300: 1.406069e6

MQRankSum
type: SiteQuality
SIO_000300: 1.68e-1

FS
type: SiteQuality
SIO_000300: 2.199e0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5802
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.173984503404555e-4
allele num: 8518
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11360
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16146
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9954
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.875e1

MQRankSum
type: SiteQuality
SIO_000300: -3.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

QD
type: SiteQuality
SIO_000300: 6.38e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

DP
type: SiteQuality
SIO_000300: 1.404634e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.342e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.694e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.561231499406732e-5
allele num: 64052
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5694
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9832
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11276
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.390495e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.44e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.4e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.33e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.61e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

FS
type: SiteQuality
SIO_000300: 1.061e0

QD
type: SiteQuality
SIO_000300: 9.539999999999999e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

European (Finnish)
type: Population
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allele frequency: 0.0e0
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African
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South Asian
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European (Non-Finnish)
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East Asian
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Latino
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MQ
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ClippingRankSum
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DP
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ReadPosRankSum
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VQSLOD
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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QD
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FS
type: SiteQuality
SIO_000300: 2.062e0

African
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allele num: 9774
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Latino
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East Asian
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European (Finnish)
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South Asian
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European (Non-Finnish)
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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MQ
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InbreedingCoeff
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DP
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QD
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FS
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ReadPosRankSum
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VQSLOD
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European (Finnish)
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African
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South Asian
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East Asian
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European (Non-Finnish)
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Other
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BaseQRankSum
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SIO_000300: -6.919999999999999e-1

InbreedingCoeff
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QD
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MQ
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ReadPosRankSum
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FS
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DP
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VQSLOD
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MQRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.7e-1

South Asian
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Latino
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European (Non-Finnish)
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East Asian
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European (Finnish)
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Other
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.7e-1

BaseQRankSum
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FS
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DP
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ReadPosRankSum
type: SiteQuality
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MQ
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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VQSLOD
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QD
type: SiteQuality
SIO_000300: 9.59e0

Latino
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African
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European (Finnish)
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East Asian
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European (Non-Finnish)
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South Asian
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.7e-2

InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 9.03e-1

QD
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FS
type: SiteQuality
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DP
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -4.1e-1

European (Finnish)
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African
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European (Non-Finnish)
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South Asian
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East Asian
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Other
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VQSLOD
type: SiteQuality
SIO_000300: 3.4e-1

MQRankSum
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DP
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 5.92e-1

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.968e1

QD
type: SiteQuality
SIO_000300: 9.880000000000001e0

Latino
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African
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European (Finnish)
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South Asian
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East Asian
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European (Non-Finnish)
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allele num: 63250
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QD
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.63e-1

ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 1.34e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.7e-1

DP
type: SiteQuality
SIO_000300: 1.365111e6

Latino
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South Asian
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Other
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European (Finnish)
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East Asian
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European (Non-Finnish)
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allele num: 62742
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FS
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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MQRankSum
type: SiteQuality
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QD
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
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MQ
type: SiteQuality
SIO_000300: 5.823e1

Latino
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European (Finnish)
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South Asian
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European (Non-Finnish)
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allele count: 1
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East Asian
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African
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DP
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MQRankSum
type: SiteQuality
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ClippingRankSum
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MQ
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ReadPosRankSum
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QD
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BaseQRankSum
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FS
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.89e-2

Latino
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South Asian
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East Asian
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European (Non-Finnish)
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European (Finnish)
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Other
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MQRankSum
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VQSLOD
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QD
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DP
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FS
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ReadPosRankSum
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InbreedingCoeff
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MQ
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
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SIO_000300: 8.0e-3

East Asian
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European (Finnish)
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Latino
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African
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South Asian
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Other
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FS
type: SiteQuality
SIO_000300: 7.958e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.87e-1

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.6e-3

VQSLOD
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DP
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ReadPosRankSum
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MQ
type: SiteQuality
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African
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European (Non-Finnish)
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East Asian
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European (Finnish)
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South Asian
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Other
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ClippingRankSum
type: SiteQuality
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DP
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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VQSLOD
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QD
type: SiteQuality
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MQRankSum
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BaseQRankSum
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MQ
type: SiteQuality
SIO_000300: 6.0e1

East Asian
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allele count: 0
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Latino
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allele count: 1
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African
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Other
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European (Non-Finnish)
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allele count: 0
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South Asian
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
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FS
type: SiteQuality
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InbreedingCoeff
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MQ
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VQSLOD
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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Other
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European (Finnish)
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African
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Latino
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South Asian
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East Asian
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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FS
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VQSLOD
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MQRankSum
type: SiteQuality
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MQ
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ClippingRankSum
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QD
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DP
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SIO_000300: 1.081576e6

European (Finnish)
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African
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Latino
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Other
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European (Non-Finnish)
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allele count: 0
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South Asian
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FS
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QD
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InbreedingCoeff
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ReadPosRankSum
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MQ
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BaseQRankSum
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
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SIO_000300: 8.66524e5

European (Finnish)
type: Population
allele count: 0
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South Asian
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African
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allele count: 262
allele frequency: 5.791335101679929e-2
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Latino
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Other
type: Population
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European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 1.490046489450471e-4
allele num: 33556
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.82e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

FS
type: SiteQuality
SIO_000300: 1.495e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.231e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.33e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.56e0

QD
type: SiteQuality
SIO_000300: 1.466e1

DP
type: SiteQuality
SIO_000300: 6.70379e5

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

African
type: Population
allele count: 2
allele frequency: 1.94325689856199e-4
allele num: 10292
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6468
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65888
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8546
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.54e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.39e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.42e0

QD
type: SiteQuality
SIO_000300: 1.271e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.262e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

DP
type: SiteQuality
SIO_000300: 1.76296e6

African
type: Population
allele count: 5
allele frequency: 4.849660523763337e-4
allele num: 10310
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6494
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11464
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8540
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16050
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
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QD
type: SiteQuality
SIO_000300: 1.26e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.089e0

DP
type: SiteQuality
SIO_000300: 1.764012e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.3e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.86e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

MQ
type: SiteQuality
SIO_000300: 5.956e1

VQSLOD
type: SiteQuality
SIO_000300: 3.85e0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10312
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515197430225158e-5
allele num: 65998
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8550
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11474
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6496
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.234e0

MQRankSum
type: SiteQuality
SIO_000300: -1.401e0

VQSLOD
type: SiteQuality
SIO_000300: -9.581e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.770265e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.69e-1

QD
type: SiteQuality
SIO_000300: 9.52e0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6504
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11494
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16108
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10318
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.026909222992402e-5
allele num: 66074
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.94e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.64e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.76e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.02e-1

MQ
type: SiteQuality
SIO_000300: 5.953e1

DP
type: SiteQuality
SIO_000300: 1.797393e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.57e-1

QD
type: SiteQuality
SIO_000300: 1.771e1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10334
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6510
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11514
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16182
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MQRankSum
type: SiteQuality
SIO_000300: -6.96e-1

FS
type: SiteQuality
SIO_000300: 6.245e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.78e-1

DP
type: SiteQuality
SIO_000300: 1.827315e6

VQSLOD
type: SiteQuality
SIO_000300: -7.157e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.83e-1

QD
type: SiteQuality
SIO_000300: 7.83e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -9.83e-1

MQ
type: SiteQuality
SIO_000300: 5.954e1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6522
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.669309611293753e-5
allele num: 10342
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16236
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MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.46e0

FS
type: SiteQuality
SIO_000300: 1.224e0

MQRankSum
type: SiteQuality
SIO_000300: 3.11e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.340000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.55e-1

DP
type: SiteQuality
SIO_000300: 1.842423e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.25e-1

QD
type: SiteQuality
SIO_000300: 1.502e1

African
type: Population
allele count: 1
allele frequency: 9.650646593321752e-5
allele num: 10362
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66456
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6538
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16298
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.981e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.102e0

VQSLOD
type: SiteQuality
SIO_000300: 4.45e0

MQRankSum
type: SiteQuality
SIO_000300: -2.6e-2

QD
type: SiteQuality
SIO_000300: 1.303e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.02e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.852904e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.31e-1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6538
num of homozygotes: 0

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

South Asian
type: Population
allele count: 11
allele frequency: 6.749294391949932e-4
allele num: 16298
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66456
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10362
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 1.852904e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.02e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.45e0

QD
type: SiteQuality
SIO_000300: 1.303e1

MQRankSum
type: SiteQuality
SIO_000300: -2.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.102e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.31e-1

MQ
type: SiteQuality
SIO_000300: 5.981e1

South Asian
type: Population
allele count: 1
allele frequency: 6.095330976472023e-5
allele num: 16406
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.925669170036588e-4
allele num: 10386
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.863996e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.56e-1

MQ
type: SiteQuality
SIO_000300: 5.938e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -7.1e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.376e0

FS
type: SiteQuality
SIO_000300: 7.71e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.47e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.91e0

QD
type: SiteQuality
SIO_000300: 1.138e1

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
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South Asian
type: Population
allele count: 1
allele frequency: 6.084205402774397e-5
allele num: 16436
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.003814844852963e-5
allele num: 66582
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.945e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.135e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.97e-1

QD
type: SiteQuality
SIO_000300: 1.267e1

FS
type: SiteQuality
SIO_000300: 1.349e0

VQSLOD
type: SiteQuality
SIO_000300: 1.8e0

MQRankSum
type: SiteQuality
SIO_000300: -1.89e-1

DP
type: SiteQuality
SIO_000300: 1.865463e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.32e-1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66598
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.03951367781155e-4
allele num: 16450
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
allele count: 0
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allele num: 11564
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.55e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.57e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

QD
type: SiteQuality
SIO_000300: 1.312e1

MQRankSum
type: SiteQuality
SIO_000300: 1.86e-1

DP
type: SiteQuality
SIO_000300: 1.89111e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.53e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.599999999999999e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.1e-1

Other
type: Population
allele count: 7
allele frequency: 7.72626931567329e-3
allele num: 906
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East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
type: Population
allele count: 16
allele frequency: 2.442748091603053e-3
allele num: 6550
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European (Non-Finnish)
type: Population
allele count: 697
allele frequency: 1.046577975314574e-2
allele num: 66598
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South Asian
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allele count: 70
allele frequency: 4.25531914893617e-3
allele num: 16450
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African
type: Population
allele count: 9
allele frequency: 8.660508083140878e-4
allele num: 10392
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

QD
type: SiteQuality
SIO_000300: 1.312e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.1e-1

DP
type: SiteQuality
SIO_000300: 1.89111e6

VQSLOD
type: SiteQuality
SIO_000300: 4.53e0

FS
type: SiteQuality
SIO_000300: 6.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.599999999999999e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.86e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.57e-1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.500915558490679e-5
allele num: 66626
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African
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East Asian
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allele count: 2
allele frequency: 2.31107002542177e-4
allele num: 8654
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Latino
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allele count: 1
allele frequency: 8.64902266043937e-5
allele num: 11562
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6560
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.871842e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.53e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.429e-1

QD
type: SiteQuality
SIO_000300: 9.69e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.900000000000001e-2

MQ
type: SiteQuality
SIO_000300: 5.91e1

MQRankSum
type: SiteQuality
SIO_000300: 3.4e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.758e0

South Asian
type: Population
allele count: 1
allele frequency: 6.067224851352991e-5
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Other
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allele count: 0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
allele num: 8654
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele count: 0
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FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.216e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.59e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e-1

QD
type: SiteQuality
SIO_000300: 8.789999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.59e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.812e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.87182e6

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
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allele num: 8654
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South Asian
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allele count: 1
allele frequency: 6.064281382656155e-5
allele num: 16490
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.053e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.23e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.16e0

VQSLOD
type: SiteQuality
SIO_000300: 5.74e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.509e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.87337e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.138e1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499880009599232e-5
allele num: 66672
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.29e0

QD
type: SiteQuality
SIO_000300: 1.17e1

MQ
type: SiteQuality
SIO_000300: 5.954e1

FS
type: SiteQuality
SIO_000300: 3.37e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0