1-11562152-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11562152
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11562152
    reference: chr 1
allele count: 1
allele frequency: 9.403268576157072e-6
allele num: 106346
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.1096+7C>T
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.1096+7C>T
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 882
  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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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
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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
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genotype depth: GenotypeDepth
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  bin: 7.5e0
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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: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
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
  all individuals: 2707
  bin: 1.25e1
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genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  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: 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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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 505
  bin: 3.25e1
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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: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
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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: 1.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 4253
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
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  variant carriers: 0
hgvs: c.1096+7C>T
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 1
  allele frequency: 8.793527963418924e-5
  allele num: 11372
  num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

1-11562156-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11562156
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11562156
    reference: chr 1
allele count: 464
allele frequency: 4.387457922009153e-3
allele num: 105756
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.1096+11G>A
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.1096+11G>A
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 703
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genotype depth: GenotypeDepth
  all individuals: 77
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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: 2
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: 18
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
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genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.75e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 367
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  variant carriers: 55
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 234
  bin: 8.75e1
  variant carriers: 1
num of homozygotes: 2
population: European (Non-Finnish)
  type: Population
  allele count: 365
  allele frequency: 5.97576948264571e-3
  allele num: 61080
  num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: East Asian
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

1-11562163-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11562163
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11562163
    reference: chr 1
allele count: 6
allele frequency: 5.700495943147053e-5
allele num: 105254
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.1096+18T>C
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.1096+18T>C
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  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
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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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  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 60826
  num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD

1-11562169-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11562169
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11562169
    reference: chr 1
allele count: 77
allele frequency: 7.367293046040798e-4
allele num: 104516
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.1096+24G>T
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.1096+24G>T
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
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  variant carriers: 6
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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num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8626
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ

1-11562170-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11562170
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11562170
    reference: chr 1
allele count: 1
allele frequency: 9.57450882769714e-6
allele num: 104444
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.1096+25G>A
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.1096+25G>A
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4387
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4968
  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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 60406
  num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: African
reference allele: G
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

1-11562172-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11562172
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11562172
    reference: chr 1
allele count: 3
allele frequency: 2.878305253866523e-5
allele num: 104228
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.1096+27G>T
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.1096+27G>T
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  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
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8382
  num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQ
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site quality: BaseQRankSum
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site quality: InbreedingCoeff

1-11562173-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11562173
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11562173
    reference: chr 1
allele count: 9
allele frequency: 8.645533141210375e-5
allele num: 104100
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.1096+28C>T
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.1096+28C>T
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
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  variant carriers: 1
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: Latino
  type: Population
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  allele frequency: 0.0e0
  allele num: 11282
  num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

1-11562174-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11562174
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11562174
    reference: chr 1
allele count: 7
allele frequency: 6.737377042868968e-5
allele num: 103898
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.1096+29G>A
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.1096+29G>A
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: Latino
  type: Population
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  allele num: 11274
  num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

1-11562178-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11562178
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11562178
    reference: chr 1
allele count: 1
allele frequency: 9.629087547663984e-6
allele num: 103852
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.1096+33G>A
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.1096+33G>A
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 3.75e1
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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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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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  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 724
  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: 60070
  num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS

1-11562183-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11562183
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11562183
    reference: chr 1
allele count: 1
allele frequency: 9.665197556638057e-6
allele num: 103464
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.1096+38G>C
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.1096+38G>C
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7856
  bin: 1.75e1
  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 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
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11240
  num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

1-11562184-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11562184
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11562184
    reference: chr 1
allele count: 2
allele frequency: 1.937121050694458e-5
allele num: 103246
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.1096+39G>A
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.1096+39G>A
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 4.25e1
  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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: European (Non-Finnish)
  type: Population
  allele count: 2
  allele frequency: 3.349522693016245e-5
  allele num: 59710
  num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: African
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum

1-11562191-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11562191
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11562191
    reference: chr 1
allele count: 1
allele frequency: 9.774597775301547e-6
allele num: 102306
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.1096+46A>G
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.1096+46A>G
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5870
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
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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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num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8314
  num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
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site quality: MQ
site quality: QD

1-11562196-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11562196
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11562196
    reference: chr 1
allele count: 1
allele frequency: 9.835936577880946e-6
allele num: 101668
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.1096+51T>A
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.1096+51T>A
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3501
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
  all individuals: 15685
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4881
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8270
  num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP

1-11562696-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11562696
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11562696
    reference: chr 1
allele count: 1
allele frequency: 1.140224852340882e-5
allele num: 87702
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.1097-39C>G
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.1097-39C>G
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21696
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11845
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  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
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  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: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  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
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  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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  bin: 2.25e1
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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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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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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2452
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6508
  num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

1-11562707-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11562707
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11562707
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 91812
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.1097-28C>T
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.1097-28C>T
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 15119
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.75e1
  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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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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  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: 3.25e1
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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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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3372
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
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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: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 1080
  bin: 4.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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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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genotype quality: GenotypeQuality
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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 (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5112
  num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
population: African
reference allele: C
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

1-11562713-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11562713
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11562713
    reference: chr 1
allele count: 1
allele frequency: 1.049075764251694e-5
allele num: 95322
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.1097-22G>A
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.1097-22G>A
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11967
  bin: 7.5e0
  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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  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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  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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num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5252
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-11562714-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11562714
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11562714
    reference: chr 1
allele count: 2
allele frequency: 2.084592774801443e-5
allele num: 95942
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.1097-21C>T
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.1097-21C>T
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 11996
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

1-11562720-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11562720
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11562720
    reference: chr 1
allele count: 1
allele frequency: 9.87049905243209e-6
allele num: 101312
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.1097-15C>T
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
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  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: intron
filter: PASS
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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num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 1
  allele frequency: 1.313025210084034e-4
  allele num: 7616
  num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
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site quality: VQSLOD
site quality: ClippingRankSum
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site quality: QD
site quality: DP

1-11562722-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11562722
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11562722
    reference: chr 1
allele count: 1
allele frequency: 9.678855572117152e-6
allele num: 103318
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.1097-13C>T
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.1097-13C>T
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: intron
filter: PASS
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 quality: GenotypeQuality
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num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
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  allele num: 7758
  num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
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1-11562727-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11562727
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11562727
    reference: chr 1
allele count: 1
allele frequency: 9.32331387868504e-6
allele num: 107258
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.1097-8C>T
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.1097-8C>T
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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hgvs: c.1097-8C>T
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population: South Asian
  type: Population
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  allele num: 13834
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population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
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site quality: InbreedingCoeff
site quality: FS
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1-11562736-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11562736
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11562736
    reference: chr 1
allele count: 2
allele frequency: 1.777272242562116e-5
allele num: 112532
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.1098C>T
  hgvsp: ENST00000389575.3:c.1098C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.1098C>T
  hgvsp: ENST00000294484.6:c.1098C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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hgvs: c.1098C>T
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
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1-11562739-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11562739
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11562739
    reference: chr 1
allele count: 16
allele frequency: 1.40019252647239e-4
allele num: 114270
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.1101C>T
  hgvsp: ENST00000294484.6:c.1101C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.1101C>T
  hgvsp: ENST00000389575.3:c.1101C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: synonymous
filter: PASS
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: 27
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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: 9.75e1
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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: 2.75e1
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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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  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 669
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 1128
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 843
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1178
  bin: 7.75e1
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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: 1.25e1
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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
  all individuals: 4146
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser367Ser
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6224
  num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

1-11562743-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11562743
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11562743
    reference: chr 1
allele count: 1
allele frequency: 8.628276588034307e-6
allele num: 115898
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.1105G>A
  hgvsp: ENSP00000374226.3:p.Glu369Lys
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.1105G>A
  hgvsp: ENSP00000294484.6:p.Glu369Lys
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1506
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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
  all individuals: 424
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genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  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 depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 333
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Glu369Lys
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.553663538624075e-5
  allele num: 64364
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff

1-11562745-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11562745
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11562745
    reference: chr 1
allele count: 4
allele frequency: 3.433535339662483e-5
allele num: 116498
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.1107G>A
  hgvsp: ENST00000294484.6:c.1107G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.1107G>A
  hgvsp: ENST00000389575.3:c.1107G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  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 depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 2
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
  all individuals: 2420
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 332
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Glu369Glu
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6342
  num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD

1-11562746-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11562746
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11562746
    reference: chr 1
allele count: 2
allele frequency: 1.713854802221156e-5
allele num: 116696
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.1108C>G
  hgvsp: ENSP00000294484.6:p.Leu370Val
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.1108C>G
  hgvsp: ENSP00000374226.3:p.Leu370Val
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.75e1
  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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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
  all individuals: 280
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  variant carriers: 0
hgvs: p.Leu370Val
num of homozygotes: 0
population: African
  type: Population
  allele count: 2
  allele frequency: 2.148689299527288e-4
  allele num: 9308
  num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: QD

1-11562748-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11562748
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11562748
    reference: chr 1
allele count: 1
allele frequency: 8.514841368505305e-6
allele num: 117442
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.1110G>T
  hgvsp: ENST00000389575.3:c.1110G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.1110G>T
  hgvsp: ENST00000294484.6:c.1110G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1612
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  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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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1264
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 9.75e1
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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: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu370Leu
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8532
  num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

1-11562749-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11562749
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11562749
    reference: chr 1
allele count: 1
allele frequency: 8.498053945646446e-6
allele num: 117674
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.1111G>A
  hgvsp: ENSP00000294484.6:p.Ala371Thr
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.1111G>A
  hgvsp: ENSP00000374226.3:p.Ala371Thr
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  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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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.25e1
  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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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: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.25e1
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genotype depth: GenotypeDepth
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  bin: 9.25e1
  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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  bin: 2.25e1
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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
  all individuals: 210
  bin: 5.75e1
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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: 4.75e1
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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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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala371Thr
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 15880
  num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

1-11562760-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11562760
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11562760
    reference: chr 1
allele count: 8
allele frequency: 6.71073381874308e-5
allele num: 119212
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.1122C>T
  hgvsp: ENST00000389575.3:c.1122C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.1122C>T
  hgvsp: ENST00000294484.6:c.1122C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
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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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  variant carriers: 1
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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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: 249
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  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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  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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hgvs: p.His374His
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11434
  num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: QD
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

1-11562777-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11562777
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11562777
    reference: chr 1
allele count: 1
allele frequency: 8.326671995736744e-6
allele num: 120096
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.1139A>G
  hgvsp: ENSP00000374226.3:p.Tyr380Cys
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.1139A>G
  hgvsp: ENSP00000294484.6:p.Tyr380Cys
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 4.25e1
  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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genotype quality: GenotypeQuality
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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: 1403
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hgvs: p.Tyr380Cys
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 888
  num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

1-11562780-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11562780
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11562780
    reference: chr 1
allele count: 1
allele frequency: 8.321129010784183e-6
allele num: 120176
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.1142T>C
  hgvsp: ENSP00000294484.6:p.Val381Ala
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.1142T>C
  hgvsp: ENSP00000374226.3:p.Val381Ala
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
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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  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 794
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1407
  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: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 49491
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val381Ala
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9742
  num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

1-11562781-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11562781
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11562781
    reference: chr 1
allele count: 2
allele frequency: 1.664031949413429e-5
allele num: 120190
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.1143G>T
  hgvsp: ENST00000389575.3:c.1143G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.1143G>T
  hgvsp: ENST00000294484.6:c.1143G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
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genotype depth: GenotypeDepth
  all individuals: 71
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 77
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genotype depth: GenotypeDepth
  all individuals: 194
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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
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  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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  bin: 1.75e1
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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: 67
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val381Val
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.504483360414034e-5
  allele num: 66468
  num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD

1-11562782-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11562782
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11562782
    reference: chr 1
allele count: 1
allele frequency: 8.31849867735871e-6
allele num: 120214
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.1144G>A
  hgvsp: ENSP00000374226.3:p.Asp382Asn
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.1144G>A
  hgvsp: ENSP00000294484.6:p.Asp382Asn
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
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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
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  variant carriers: 0
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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hgvs: p.Asp382Asn
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 6.102770657878677e-5
  allele num: 16386
  num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD

1-11562793-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11562793
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11562793
    reference: chr 1
allele count: 2
allele frequency: 1.660908849322349e-5
allele num: 120416
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.1155C>T
  hgvsp: ENST00000294484.6:c.1155C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.1155C>T
  hgvsp: ENST00000389575.3:c.1155C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  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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  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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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.Leu385Leu
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 2
  allele frequency: 3.003995313767311e-5
  allele num: 66578
  num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-11562820-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11562820
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11562820
    reference: chr 1
allele count: 1
allele frequency: 8.288025460814215e-6
allele num: 120656
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.1182C>T
  hgvsp: ENST00000389575.3:c.1182C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.1182C>T
  hgvsp: ENST00000294484.6:c.1182C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 1
hgvs: p.Leu394Leu
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.49947518368571e-5
  allele num: 66690
  num of homozygotes: 0
population: South Asian
population: Other
population: African
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum

1-11562821-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11562821
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11562821
    reference: chr 1
allele count: 1
allele frequency: 8.288162845823595e-6
allele num: 120654
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.1183C>T
  hgvsp: ENST00000294484.6:c.1183C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.1183C>T
  hgvsp: ENST00000389575.3:c.1183C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3133
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
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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
  all individuals: 5
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
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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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  bin: 8.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 3
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13964
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49947
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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
  all individuals: 726
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
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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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  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1449
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu395Leu
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66690
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum

1-11562824-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11562824
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11562824
    reference: chr 1
allele count: 1
allele frequency: 8.286789200656313e-6
allele num: 120674
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.1186C>T
  hgvsp: ENSP00000294484.6:p.Arg396Cys
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.1186C>T
  hgvsp: ENSP00000374226.3:p.Arg396Cys
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42021
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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
  all individuals: 153
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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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  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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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  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
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 26
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
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  variant carriers: 1
hgvs: p.Arg396Cys
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16498
  num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: African
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

1-11562825-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11562825
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11562825
    reference: chr 1
allele count: 2
allele frequency: 1.657247974014352e-5
allele num: 120682
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.1187G>A
  hgvsp: ENSP00000374226.3:p.Arg396His
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.1187G>A
  hgvsp: ENSP00000294484.6:p.Arg396His
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13983
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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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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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  bin: 9.75e1
  variant carriers: 2
hgvs: p.Arg396His
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66700
  num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-11562853-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11562853
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11562853
    reference: chr 1
allele count: 1
allele frequency: 8.282670995742708e-6
allele num: 120734
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.1215G>T
  hgvsp: ENST00000389575.3:c.1215G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.1215G>T
  hgvsp: ENST00000294484.6:c.1215G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 4.25e1
  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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genotype quality: GenotypeQuality
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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.Leu405Leu
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11566
  num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

1-11562859-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11562859
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11562859
    reference: chr 1
allele count: 1
allele frequency: 8.282533792737874e-6
allele num: 120736
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.1221C>T
  hgvsp: ENST00000294484.6:c.1221C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.1221C>T
  hgvsp: ENST00000389575.3:c.1221C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41941
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14097
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3165
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50038
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1458
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1458
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 732
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 833
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asn407Asn
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: C
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

1-11562866-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11562866
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11562866
    reference: chr 1
allele count: 1
allele frequency: 8.282945415389712e-6
allele num: 120730
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.1228T>G
  hgvsp: ENSP00000294484.6:p.Ser410Ala
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.1228T>G
  hgvsp: ENSP00000374226.3:p.Ser410Ala
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 41922
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 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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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14103
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 732
  bin: 9.75e1
  variant carriers: 1
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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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50023
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1454
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 35
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genotype quality: GenotypeQuality
  all individuals: 326
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 835
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser410Ala
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8626
  num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD

1-11562878-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11562878
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11562878
    reference: chr 1
allele count: 3
allele frequency: 2.485089463220676e-5
allele num: 120720
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.1240C>T
  hgvsp: ENSP00000374226.3:p.Arg414Cys
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.1240C>T
  hgvsp: ENSP00000294484.6:p.Arg414Cys
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3170
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41889
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1452
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  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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  bin: 2.5e0
  variant carriers: 0
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: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 12
  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: 318
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 833
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg414Cys
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16502
  num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

1-11562878-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11562878
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11562878
    reference: chr 1
allele count: 1
allele frequency: 8.28363154406892e-6
allele num: 120720
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.1240C>G
  hgvsp: ENSP00000374226.3:p.Arg414Gly
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.1240C>G
  hgvsp: ENSP00000294484.6:p.Arg414Gly
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
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genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3170
  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: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 2.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.25e1
  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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  bin: 8.25e1
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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: 7.75e1
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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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  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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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg414Gly
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11574
  num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

1-11562879-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11562879
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11562879
    reference: chr 1
allele count: 1
allele frequency: 8.28363154406892e-6
allele num: 120720
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.1241G>A
  hgvsp: ENSP00000294484.6:p.Arg414His
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.1241G>A
  hgvsp: ENSP00000374226.3:p.Arg414His
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41885
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  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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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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  bin: 5.25e1
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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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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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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: 1.75e1
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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
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg414His
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66702
  num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQ

1-11562879-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11562879
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11562879
    reference: chr 1
allele count: 1
allele frequency: 8.28363154406892e-6
allele num: 120720
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.1241G>T
  hgvsp: ENSP00000374226.3:p.Arg414Leu
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.1241G>T
  hgvsp: ENSP00000294484.6:p.Arg414Leu
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14093
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
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genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  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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  bin: 5.75e1
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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 326
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  variant carriers: 0
hgvs: p.Arg414Leu
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16500
  num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

1-11562889-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11562889
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11562889
    reference: chr 1
allele count: 1
allele frequency: 8.287475966319697e-6
allele num: 120664
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.1251A>G
  hgvsp: ENST00000294484.6:c.1251A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.1251A>G
  hgvsp: ENST00000389575.3:c.1251A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  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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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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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.Glu417Glu
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16464
  num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

1-11562892-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11562892
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11562892
    reference: chr 1
allele count: 2
allele frequency: 1.657715005636231e-5
allele num: 120648
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.1254A>G
  hgvsp: ENST00000294484.6:c.1254A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.1254A>G
  hgvsp: ENST00000389575.3:c.1254A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
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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: 527
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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
  all individuals: 1454
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hgvs: p.Gln418Gln
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 1
  allele frequency: 1.159285879897983e-4
  allele num: 8626
  num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff

1-11562894-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11562894
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11562894
    reference: chr 1
allele count: 6
allele frequency: 4.973722167879702e-5
allele num: 120634
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.1256G>A
  hgvsp: ENSP00000374226.3:p.Arg419Gln
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.1256G>A
  hgvsp: ENSP00000294484.6:p.Arg419Gln
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14098
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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: 28
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3163
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 829
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5135
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 745
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 49864
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1448
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1453
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg419Gln
num of homozygotes: 0
population: African
  type: Population
  allele count: 4
  allele frequency: 4.079967360261118e-4
  allele num: 9804
  num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

1-11562907-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11562907
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11562907
    reference: chr 1
allele count: 1
allele frequency: 8.301510874979247e-6
allele num: 120460
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.1269G>A
  hgvsp: ENST00000389575.3:c.1269G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.1269G>A
  hgvsp: ENST00000294484.6:c.1269G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14043
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3155
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.25e1
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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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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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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 76
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 1450
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 5105
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 328
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 743
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Gln423Gln
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 6.12369871402327e-5
  allele num: 16330
  num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

1-11562913-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11562913
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11562913
    reference: chr 1
allele count: 12479
allele frequency: 1.037168171013481e-1
allele num: 120318
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.1275C>T
  hgvsp: ENST00000389575.3:c.1275C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.1275C>T
  hgvsp: ENST00000294484.6:c.1275C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 9.25e1
  variant carriers: 265
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 4.75e1
  variant carriers: 1040
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 4.25e1
  variant carriers: 1005
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 699
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 6.75e1
  variant carriers: 861
genotype depth: GenotypeDepth
  all individuals: 427
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  variant carriers: 422
genotype depth: GenotypeDepth
  all individuals: 11889
  bin: 2.75e1
  variant carriers: 355
genotype depth: GenotypeDepth
  all individuals: 2654
  bin: 3.25e1
  variant carriers: 627
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 3.75e1
  variant carriers: 859
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.75e1
  variant carriers: 301
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.75e1
  variant carriers: 81
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 1.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 5.25e1
  variant carriers: 1067
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 6.25e1
  variant carriers: 1024
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 5.75e1
  variant carriers: 1011
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 7.75e1
  variant carriers: 569
genotype depth: GenotypeDepth
  all individuals: 34274
  bin: 2.25e1
  variant carriers: 184
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 9.75e1
  variant carriers: 1085
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 57
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 42045
  bin: 6.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 2.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 8.25e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 785
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  variant carriers: 8
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 3619
  bin: 6.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 9.25e1
  variant carriers: 31
hgvs: p.Phe425Phe
num of homozygotes: 1004
population: African
  type: Population
  allele count: 2539
  allele frequency: 2.588703099510604e-1
  allele num: 9808
  num of homozygotes: 319
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum

1-11562914-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11562914
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11562914
    reference: chr 1
allele count: 1
allele frequency: 8.325008325008325e-6
allele num: 120120
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.1276G>A
  hgvsp: ENSP00000294484.6:p.Val426Met
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.1276G>A
  hgvsp: ENSP00000374226.3:p.Val426Met
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17567
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4211
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36028
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
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genotype depth: GenotypeDepth
  all individuals: 76
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genotype depth: GenotypeDepth
  all individuals: 327
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genotype depth: GenotypeDepth
  all individuals: 196
  bin: 4.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 80
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.75e1
  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
  all individuals: 38
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 1173
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 100
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 226
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genotype quality: GenotypeQuality
  all individuals: 264
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genotype quality: GenotypeQuality
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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: 49786
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 909
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5266
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Val426Met
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6612
  num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: Latino
population: East Asian
reference allele: G
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

1-11562915-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11562915
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11562915
    reference: chr 1
allele count: 2
allele frequency: 1.665556295802798e-5
allele num: 120080
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.1277T>C
  hgvsp: ENSP00000294484.6:p.Val426Ala
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.1277T>C
  hgvsp: ENSP00000374226.3:p.Val426Ala
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4189
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35992
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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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genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
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  bin: 3.75e1
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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
  all individuals: 331
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
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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: 49723
  bin: 6.25e1
  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
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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: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 108
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 2.25e1
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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: 7.5e0
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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: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1193
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Val426Ala
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: East Asian
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

1-11562921-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11562921
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11562921
    reference: chr 1
allele count: 1
allele frequency: 8.361763328650746e-6
allele num: 119592
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.1283C>T
  hgvsp: ENSP00000294484.6:p.Thr428Ile
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.1283C>T
  hgvsp: ENSP00000374226.3:p.Thr428Ile
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
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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: 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
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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: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1156
  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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Thr428Ile
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 15722
  num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

1-11562922-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11562922
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11562922
    reference: chr 1
allele count: 2
allele frequency: 1.672856234735187e-5
allele num: 119556
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.1284C>T
  hgvsp: ENST00000389575.3:c.1284C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.1284C>T
  hgvsp: ENST00000294484.6:c.1284C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35576
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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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  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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  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: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 532
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Thr428Thr
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66404
  num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Other
population: Latino
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: QD

1-11562925-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11562925
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11562925
    reference: chr 1
allele count: 2
allele frequency: 1.677205105412341e-5
allele num: 119246
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.1287C>T
  hgvsp: ENST00000389575.3:c.1287C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.1287C>T
  hgvsp: ENST00000294484.6:c.1287C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35388
  bin: 2.25e1
  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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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.Tyr429Tyr
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8620
  num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQ

1-11562929-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11562929
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11562929
    reference: chr 1
allele count: 2
allele frequency: 1.683898561950628e-5
allele num: 118772
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.1291G>A
  hgvsp: ENSP00000294484.6:p.Ala431Thr
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.1291G>A
  hgvsp: ENSP00000374226.3:p.Ala431Thr
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1101
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1112
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 901
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Ala431Thr
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 15190
  num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-11562937-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11562937
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11562937
    reference: chr 1
allele count: 1
allele frequency: 8.462241478522831e-6
allele num: 118172
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.1299G>A
  hgvsp: ENST00000294484.6:c.1299G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.1299G>A
  hgvsp: ENST00000389575.3:c.1299G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3753
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16600
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34791
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1803
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 7.5e0
  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: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2414
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1080
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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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: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu433Leu
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9746
  num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

1-11562938-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11562938
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11562938
    reference: chr 1
allele count: 1
allele frequency: 8.470269354565475e-6
allele num: 118060
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.1300G>T
  hgvsp: ENSP00000374226.3:p.Ala434Ser
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.1300G>T
  hgvsp: ENSP00000294484.6:p.Ala434Ser
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3727
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16541
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1862
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  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: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 876
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 1.75e1
  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
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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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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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 4772
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1059
  bin: 7.25e1
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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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genotype quality: GenotypeQuality
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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: 501
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala434Ser
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 65992
  num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: African
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum

1-11562943-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11562943
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11562943
    reference: chr 1
allele count: 3
allele frequency: 2.552322613578356e-5
allele num: 117540
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.1305G>A
  hgvsp: ENST00000294484.6:c.1305G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.1305G>A
  hgvsp: ENST00000389575.3:c.1305G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16281
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34370
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  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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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 3.25e1
  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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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2275
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 4.75e1
  variant carriers: 0
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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 494
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Lys435Lys
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6576
  num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

1-11562952-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11562952
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11562952
    reference: chr 1
allele count: 1
allele frequency: 8.622324923692425e-6
allele num: 115978
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.1314C>T
  hgvsp: ENST00000294484.6:c.1314C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.1314C>T
  hgvsp: ENST00000389575.3:c.1314C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 2.5e0
  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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 8.75e1
  variant carriers: 0
hgvs: c.1314C>T
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: African
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

1-11562957-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11562957
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11562957
    reference: chr 1
allele count: 1
allele frequency: 8.705796319189316e-6
allele num: 114866
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.1316+3A>G
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.1316+3A>G
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14920
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 13
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genotype depth: GenotypeDepth
  all individuals: 2736
  bin: 7.5e0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 20
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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: 1
genotype depth: GenotypeDepth
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  bin: 1.75e1
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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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  bin: 3.25e1
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genotype depth: GenotypeDepth
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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
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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
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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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  bin: 2.5e0
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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
  all individuals: 183
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 872
  bin: 9.75e1
  variant carriers: 1
hgvs: c.1316+3A>G
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 64752
  num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP

1-11562958-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11562958
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11562958
    reference: chr 1
allele count: 1
allele frequency: 8.709284096847239e-6
allele num: 114820
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.1316+4G>T
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.1316+4G>T
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2747
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3321
  bin: 3.25e1
  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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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: 5.25e1
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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
  all individuals: 183
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 1027
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 950
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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: 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: 459
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 276
  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
  all individuals: 189
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  variant carriers: 0
hgvs: c.1316+4G>T
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 13374
  num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ

1-11562967-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11562967
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11562967
    reference: chr 1
allele count: 2
allele frequency: 1.779264452075512e-5
allele num: 112406
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.1316+13G>C
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.1316+13G>C
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3680
  bin: 7.5e0
  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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  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
  all individuals: 304
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 12622
  num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD

1-11562970-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11562970
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11562970
    reference: chr 1
allele count: 1
allele frequency: 8.949346697691069e-6
allele num: 111740
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.1316+16G>C
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.1316+16G>C
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3907
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
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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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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: 822
  num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum

1-11562971-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11562971
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11562971
    reference: chr 1
allele count: 1
allele frequency: 8.969253399347038e-6
allele num: 111492
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.1316+17C>T
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.1316+17C>T
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
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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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num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.580378026423921e-5
  allele num: 63276
  num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

1-11562972-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11562972
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11562972
    reference: chr 1
allele count: 1
allele frequency: 8.981498113885396e-6
allele num: 111340
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.1316+18A>G
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.1316+18A>G
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.75e1
  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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num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 1
  allele frequency: 1.207437816952427e-4
  allele num: 8282
  num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: Other
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
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site quality: DP

1-11562972-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11562972
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11562972
    reference: chr 1
allele count: 1
allele frequency: 8.981498113885396e-6
allele num: 111340
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.1316+18A>T
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.1316+18A>T
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12634
  bin: 2.75e1
  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 quality: GenotypeQuality
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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: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10918
  num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum

1-11562973-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11562973
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11562973
    reference: chr 1
allele count: 1
allele frequency: 8.998632207904399e-6
allele num: 111128
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.1316+19T>C
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.1316+19T>C
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 820
  num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

1-11562977-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11562977
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11562977
    reference: chr 1
allele count: 1
allele frequency: 9.105975341018777e-6
allele num: 109818
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.1316+23G>A
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.1316+23G>A
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 2.5e0
  variant carriers: 0
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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  bin: 9.75e1
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num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10756
  num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: African
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: BaseQRankSum

1-11562985-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11562985
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11562985
    reference: chr 1
allele count: 1
allele frequency: 9.232416862086156e-6
allele num: 108314
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.1316+31A>G
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.1316+31A>G
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
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  bin: 7.75e1
  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 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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num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 61940
  num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
reference allele: A
site quality: MQ
site quality: DP
site quality: FS
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site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
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1-11574398-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11574398
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11574398
    reference: chr 1
allele count: 2
allele frequency: 1.66858554003771e-5
allele num: 119862
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.1317-49T>G
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.1317-49T>G
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1491
  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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: Latino
  type: Population
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  allele frequency: 0.0e0
  allele num: 11572
  num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

1-11574429-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11574429
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11574429
    reference: chr 1
allele count: 1
allele frequency: 8.309650828472188e-6
allele num: 120342
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.1317-18C>T
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.1317-18C>T
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5410
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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num of homozygotes: 0
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  type: Population
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  allele num: 896
  num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
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site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
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1-11574444-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11574444
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11574444
    reference: chr 1
allele count: 3
allele frequency: 2.486696175461282e-5
allele num: 120642
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.1317-3C>T
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.1317-3C>T
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3604
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
  all individuals: 2014
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2250
  bin: 8.25e1
  variant carriers: 0
hgvs: c.1317-3C>T
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16448
  num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ

1-11574465-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11574465
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11574465
    reference: chr 1
allele count: 1
allele frequency: 8.281573498964803e-6
allele num: 120750
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.1335T>C
  hgvsp: ENST00000389575.3:c.1335T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.1335T>C
  hgvsp: ENST00000294484.6:c.1335T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4095
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4272
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5407
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6519
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3598
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6684
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2019
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5595
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3817
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3601
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3047
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1491
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2119
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2007
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2723
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41205
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6826
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 60
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2519
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1451
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Tyr445Tyr
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 900
  num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

1-11574467-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11574467
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11574467
    reference: chr 1
allele count: 1
allele frequency: 8.281162012653616e-6
allele num: 120756
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.1337G>T
  hgvsp: ENSP00000374226.3:p.Gly446Val
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.1337G>T
  hgvsp: ENSP00000294484.6:p.Gly446Val
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2118
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3601
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2019
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6685
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5594
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4098
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3817
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3598
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6519
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3047
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
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genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1491
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4272
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2521
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41205
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 6826
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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
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genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2249
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly446Val
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8624
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
population: Latino
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-11574484-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11574484
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11574484
    reference: chr 1
allele count: 1
allele frequency: 8.280750567231414e-6
allele num: 120762
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.1354G>A
  hgvsp: ENSP00000294484.6:p.Asp452Asn
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.1354G>A
  hgvsp: ENSP00000374226.3:p.Asp452Asn
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6517
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1491
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3047
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3608
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3622
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
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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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  bin: 4.75e1
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genotype depth: GenotypeDepth
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  bin: 6.75e1
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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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  bin: 3.75e1
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genotype depth: GenotypeDepth
  all individuals: 2118
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5401
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2018
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41197
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2007
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genotype quality: GenotypeQuality
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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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  bin: 8.75e1
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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
  all individuals: 1351
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2723
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asp452Asn
num of homozygotes: 0
population: African
  type: Population
  allele count: 1
  allele frequency: 1.019991840065279e-4
  allele num: 9804
  num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum

1-11574503-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11574503
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11574503
    reference: chr 1
allele count: 3
allele frequency: 2.484019474712682e-5
allele num: 120772
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.1373C>T
  hgvsp: ENSP00000374226.3:p.Thr458Met
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.1373C>T
  hgvsp: ENSP00000294484.6:p.Thr458Met
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5401
  bin: 4.25e1
  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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  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: 6.25e1
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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
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2018
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  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 7.75e1
  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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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6863
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Thr458Met
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11576
  num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
reference allele: C
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

1-11574504-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11574504
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11574504
    reference: chr 1
allele count: 4
allele frequency: 3.311971119611837e-5
allele num: 120774
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.1374G>A
  hgvsp: ENST00000389575.3:c.1374G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.1374G>A
  hgvsp: ENST00000294484.6:c.1374G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5402
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2118
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6518
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6683
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3811
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4100
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3635
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3047
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3605
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6448
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4272
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2018
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5591
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2531
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1450
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2002
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1348
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2254
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41198
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6861
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2722
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Thr458Thr
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 898
  num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61334
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6254
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8884
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 738
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9326
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.35e-1

DP
type: SiteQuality
SIO_000300: 1.324782e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.72e0

QD
type: SiteQuality
SIO_000300: 1.218e1

MQRankSum
type: SiteQuality
SIO_000300: 1.55e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.51e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.89e-1

South Asian
type: Population
allele count: 4
allele frequency: 4.369674459252785e-4
allele num: 9154
num of homozygotes: 0

Latino
type: Population
allele count: 15
allele frequency: 1.320422535211268e-3
allele num: 11360
num of homozygotes: 0

Other
type: Population
allele count: 3
allele frequency: 4.098360655737705e-3
allele num: 732
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 71
allele frequency: 1.143317230273752e-2
allele num: 6210
num of homozygotes: 2

African
type: Population
allele count: 6
allele frequency: 6.822833750284285e-4
allele num: 8794
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8426
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.323186e6

VQSLOD
type: SiteQuality
SIO_000300: 4.25e0

FS
type: SiteQuality
SIO_000300: 6.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.6e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.44e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.32e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.9e-2

QD
type: SiteQuality
SIO_000300: 1.391e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.24e-1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8740
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 6.648936170212766e-4
allele num: 9024
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6192
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8406
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11336
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 9.71e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.47e-1

DP
type: SiteQuality
SIO_000300: 1.295676e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.416e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

FS
type: SiteQuality
SIO_000300: 3.731e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.81e-1

QD
type: SiteQuality
SIO_000300: 1.187e1

European (Finnish)
type: Population
allele count: 4
allele frequency: 6.504065040650406e-4
allele num: 6150
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.843296781039972e-5
allele num: 11308
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8874
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 728
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 72
allele frequency: 1.191106405505559e-3
allele num: 60448
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.274e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.04e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.95e0

FS
type: SiteQuality
SIO_000300: 3.514e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.96e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.65e-1

DP
type: SiteQuality
SIO_000300: 1.267055e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11308
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 726
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.193032689095681e-4
allele num: 8382
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8876
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6134
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 4.172e0

DP
type: SiteQuality
SIO_000300: 1.261739e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.200000000000001e-3

QD
type: SiteQuality
SIO_000300: 1.071e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.34e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.87e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.4e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.58e-1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11298
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 728
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8856
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8574
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6128
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.978261591052404e-5
allele num: 60262
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.56e-1

DP
type: SiteQuality
SIO_000300: 1.252351e6

VQSLOD
type: SiteQuality
SIO_000300: 9.93e-1

QD
type: SiteQuality
SIO_000300: 1.276e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.216e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.0e-3

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8554
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6110
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8836
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60212
num of homozygotes: 0

East Asian
type: Population
allele count: 9
allele frequency: 1.07424206254476e-3
allele num: 8378
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 728
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.222e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.76e0

FS
type: SiteQuality
SIO_000300: 8.055999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.19e-1

DP
type: SiteQuality
SIO_000300: 1.24627e6

MQRankSum
type: SiteQuality
SIO_000300: -2.4e-2

MQ
type: SiteQuality
SIO_000300: 5.96e1

VQSLOD
type: SiteQuality
SIO_000300: 2.68e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.7e-2

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6106
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8528
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8810
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8374
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 724
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.165074398322293e-4
allele num: 60082
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.82e-1

QD
type: SiteQuality
SIO_000300: 1.33e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.81e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.33e0

DP
type: SiteQuality
SIO_000300: 1.23119e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.45e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.184e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11266
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8366
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.638806948541462e-4
allele num: 6102
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 728
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8794
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 5.69e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.27e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.545e0

DP
type: SiteQuality
SIO_000300: 1.217782e6

VQSLOD
type: SiteQuality
SIO_000300: -1.85e0

MQRankSum
type: SiteQuality
SIO_000300: -4.5e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.07e-1

FS
type: SiteQuality
SIO_000300: 8.4e0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8770
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8356
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8470
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6068
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 726
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.671290570578601e-5
allele num: 59834
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.992e0

VQSLOD
type: SiteQuality
SIO_000300: 9.44e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.179e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.5e-3

DP
type: SiteQuality
SIO_000300: 1.189509e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.381e0

QD
type: SiteQuality
SIO_000300: 1.32e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8750
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 724
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11236
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6050
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8336
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8440
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.896e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.5e-2

FS
type: SiteQuality
SIO_000300: 1.922e0

MQRankSum
type: SiteQuality
SIO_000300: 5.91e-1

QD
type: SiteQuality
SIO_000300: 8.33e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.28e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.2e-3

DP
type: SiteQuality
SIO_000300: 1.178022e6

VQSLOD
type: SiteQuality
SIO_000300: 3.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.428e0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5984
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 712
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.152073732718894e-4
allele num: 8680
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59146
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11160
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.938e0

VQSLOD
type: SiteQuality
SIO_000300: 6.34e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.07e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -6.850000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.68e0

DP
type: SiteQuality
SIO_000300: 1.156318e6

MQRankSum
type: SiteQuality
SIO_000300: 4.37e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.552e1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8208
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 702
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5936
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.992805755395684e-5
allele num: 11120
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58824
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.637e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.96e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.986e0

VQSLOD
type: SiteQuality
SIO_000300: -4.287e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.6e-3

QD
type: SiteQuality
SIO_000300: 1.224e1

DP
type: SiteQuality
SIO_000300: 1.156833e6

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4928
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 626
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8204
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.02020202020202e-5
allele num: 49500
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7268
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10668
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 8.70134e5

BaseQRankSum
type: SiteQuality
SIO_000300: 3.26e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.775e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.54e-1

QD
type: SiteQuality
SIO_000300: 1.872e1

VQSLOD
type: SiteQuality
SIO_000300: 1.71e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.67e-1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 51642
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 654
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11438
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7556
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 9.86326e5

VQSLOD
type: SiteQuality
SIO_000300: 3.67e0

MQRankSum
type: SiteQuality
SIO_000300: 1.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.017e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.3e0

QD
type: SiteQuality
SIO_000300: 1.113e1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53458
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.28633907898122e-4
allele num: 7774
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 686
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7128
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11958
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9066
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

QD
type: SiteQuality
SIO_000300: 2.81e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.68e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.056879e6

VQSLOD
type: SiteQuality
SIO_000300: -4.942e0

MQRankSum
type: SiteQuality
SIO_000300: -1.479e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.89e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.971e0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5268
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9128
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 690
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7210
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7818
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.715262297518205e-5
allele num: 53832
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

FS
type: SiteQuality
SIO_000300: 4.189e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.11e-1

DP
type: SiteQuality
SIO_000300: 1.069322e6

QD
type: SiteQuality
SIO_000300: 1.536e1

VQSLOD
type: SiteQuality
SIO_000300: 3.17e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.05e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.66e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8148
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56650
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12918
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5508
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.331e0

FS
type: SiteQuality
SIO_000300: 2.235e0

MQRankSum
type: SiteQuality
SIO_000300: -2.2e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.058e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.76e-1

MQ
type: SiteQuality
SIO_000300: 5.839e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.070000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.181e1

DP
type: SiteQuality
SIO_000300: 1.151728e6

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 752
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57754
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5632
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.581501137225171e-5
allele num: 13190
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8282
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QD
type: SiteQuality
SIO_000300: 2.273e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.113e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 5.02e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.532e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.11e-1

DP
type: SiteQuality
SIO_000300: 1.179784e6

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59904
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5848
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10332
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.243471773190749e-4
allele num: 8042
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 772
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.2351e6

MQRankSum
type: SiteQuality
SIO_000300: 1.3e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.54e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.699999999999999e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.761e0

QD
type: SiteQuality
SIO_000300: 1.102e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.188368830506313e-5
allele num: 62728
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8878
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8334
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 826
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10834
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6112
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14820
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.155e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.03e0

MQRankSum
type: SiteQuality
SIO_000300: 4.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.64e-1

FS
type: SiteQuality
SIO_000300: 1.1016e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.38e-1

DP
type: SiteQuality
SIO_000300: 1.312271e6

QD
type: SiteQuality
SIO_000300: 1.245e1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15190
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63580
num of homozygotes: 0

African
type: Population
allele count: 14
allele frequency: 1.547987616099071e-3
allele num: 9044
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
allele count: 2
allele frequency: 1.818843215714805e-4
allele num: 10996
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ReadPosRankSum
type: SiteQuality
SIO_000300: 2.89e-1

DP
type: SiteQuality
SIO_000300: 1.335481e6

MQRankSum
type: SiteQuality
SIO_000300: -1.53e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.319e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.88e0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6312
num of homozygotes: 0

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

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

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

South Asian
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allele count: 0
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num of homozygotes: 0

East Asian
type: Population
allele count: 0
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DP
type: SiteQuality
SIO_000300: 1.357487e6

VQSLOD
type: SiteQuality
SIO_000300: -3.379e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.27e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.944e0

MQRankSum
type: SiteQuality
SIO_000300: -5.639999999999999e-1

FS
type: SiteQuality
SIO_000300: 1.786e0

QD
type: SiteQuality
SIO_000300: 3.31e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.093485120336571e-5
allele num: 64652
num of homozygotes: 0

East Asian
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allele count: 0
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Latino
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allele count: 2
allele frequency: 1.783484929552345e-4
allele num: 11214
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
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Other
type: Population
allele count: 0
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allele num: 860
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FS
type: SiteQuality
SIO_000300: 5.01e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.297e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.37e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.06e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.72e-2

DP
type: SiteQuality
SIO_000300: 1.365683e6

VQSLOD
type: SiteQuality
SIO_000300: 2.06e-1

QD
type: SiteQuality
SIO_000300: 1.486e1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6352
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15682
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64742
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.11e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.91e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.9e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.93e-1

FS
type: SiteQuality
SIO_000300: 3.935e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.369708e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.81e-1

QD
type: SiteQuality
SIO_000300: 1.121e1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15832
num of homozygotes: 0

African
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: 866
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.535579374097847e-5
allele num: 65122
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11284
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6398
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.84e0

MQ
type: SiteQuality
SIO_000300: 5.931e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.142e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.595e0

MQRankSum
type: SiteQuality
SIO_000300: 1.56e-1

DP
type: SiteQuality
SIO_000300: 1.378876e6

QD
type: SiteQuality
SIO_000300: 9.140000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.82e-1

African
type: Population
allele count: 1
allele frequency: 1.060670343657191e-4
allele num: 9428
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6430
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8540
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65222
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.896e1

MQRankSum
type: SiteQuality
SIO_000300: -4.62e-1

DP
type: SiteQuality
SIO_000300: 1.383902e6

VQSLOD
type: SiteQuality
SIO_000300: -8.428e-1

FS
type: SiteQuality
SIO_000300: 6.754e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.39e-1

QD
type: SiteQuality
SIO_000300: 7.62e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.403e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 9.49e-1

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

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.21245188081598e-4
allele num: 65982
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9626
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8588
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16190
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6514
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.016e1

MQ
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.458e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.8e-2

MQRankSum
type: SiteQuality
SIO_000300: -6.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.29e-1

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9732
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South Asian
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allele count: 1
allele frequency: 6.113216774666829e-5
allele num: 16358
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66420
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6568
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
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MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -3.41e-1

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.424e1

FS
type: SiteQuality
SIO_000300: 3.925e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 2.17e-1

DP
type: SiteQuality
SIO_000300: 1.422974e6

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16376
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66460
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.29e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.424718e6

MQRankSum
type: SiteQuality
SIO_000300: 5.4e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.968e-1

FS
type: SiteQuality
SIO_000300: 4.262e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.52e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.43e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 7.39e0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
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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: 8614
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.105006105006105e-5
allele num: 16380
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 2.13e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.79e-1

QD
type: SiteQuality
SIO_000300: 1.097e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.68e-1

DP
type: SiteQuality
SIO_000300: 1.425548e6

MQ
type: SiteQuality
SIO_000300: 5.895e1

FS
type: SiteQuality
SIO_000300: 5.052e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.767e0

VQSLOD
type: SiteQuality
SIO_000300: -1.05e0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11524
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9746
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66482
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MQRankSum
type: SiteQuality
SIO_000300: -6.879999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.883e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -4.382e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.4e0

FS
type: SiteQuality
SIO_000300: 6.206e0

VQSLOD
type: SiteQuality
SIO_000300: -2.032e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.438e0

DP
type: SiteQuality
SIO_000300: 1.426028e6

QD
type: SiteQuality
SIO_000300: 1.498e1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
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South Asian
type: Population
allele count: 0
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allele num: 16430
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9768
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6590
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
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Latino
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allele count: 0
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allele num: 11540
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MQRankSum
type: SiteQuality
SIO_000300: 2.1e-2

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.430984e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.383e0

QD
type: SiteQuality
SIO_000300: 1.237e1

FS
type: SiteQuality
SIO_000300: 6.997e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.216e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.29e0

South Asian
type: Population
allele count: 0
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Other
type: Population
allele count: 0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
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allele num: 8626
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
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European (Finnish)
type: Population
allele count: 0
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allele num: 6610
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ReadPosRankSum
type: SiteQuality
SIO_000300: 5.27e-1

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

DP
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.909e1

FS
type: SiteQuality
SIO_000300: 5.525e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.66e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.98e-1

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

Latino
type: Population
allele count: 1
allele frequency: 8.659508139937652e-5
allele num: 11548
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African
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allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
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Other
type: Population
allele count: 0
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allele num: 894
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South Asian
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allele count: 0
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.051e0

VQSLOD
type: SiteQuality
SIO_000300: -1.327e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -3.35e-1

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66692
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Latino
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allele count: 1
allele frequency: 8.655011251514626e-5
allele num: 11554
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 894
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 9800
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.473e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.266e0

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 2.54e-1

InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.438883e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.57e0

Latino
type: Population
allele count: 0
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allele num: 11554
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African
type: Population
allele count: 0
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allele num: 9800
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South Asian
type: Population
allele count: 1
allele frequency: 6.062075654704171e-5
allele num: 16496
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
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Other
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allele count: 0
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East Asian
type: Population
allele count: 1
allele frequency: 1.159285879897983e-4
allele num: 8626
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FS
type: SiteQuality
SIO_000300: 1.968e0

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 6.31e-1

QD
type: SiteQuality
SIO_000300: 1.288e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.29e-1

DP
type: SiteQuality
SIO_000300: 1.439019e6

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.14e-1

East Asian
type: Population
allele count: 0
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African
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allele frequency: 1.020408163265306e-4
allele num: 9800
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66722
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
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Other
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South Asian
type: Population
allele count: 0
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allele num: 16508
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.37e0

DP
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.963e1

FS
type: SiteQuality
SIO_000300: 6.709e0

MQRankSum
type: SiteQuality
SIO_000300: -9.93e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.641e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.8e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

Latino
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allele count: 0
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allele num: 11570
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South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
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Other
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66718
num of homozygotes: 0

East Asian
type: Population
allele count: 0
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num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9800
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

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

South Asian
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allele frequency: 6.056935190793458e-5
allele num: 16510
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Other
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allele count: 0
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allele num: 898
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66710
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Latino
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allele count: 0
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allele num: 11572
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.440228e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.4e0

MQ
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.688e0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 2.998500749625187e-5
allele num: 66700
num of homozygotes: 0

African
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allele count: 0
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allele num: 9804
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East Asian
type: Population
allele count: 1
allele frequency: 1.159285879897983e-4
allele num: 8626
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.952e1

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

FS
type: SiteQuality
SIO_000300: 5.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.62e-1

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.194e1

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66700
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 900
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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African
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allele num: 9804
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South Asian
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allele frequency: 6.059871530723549e-5
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DP
type: SiteQuality
SIO_000300: 1.440283e6

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.62e-1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

MQ
type: SiteQuality
SIO_000300: 5.952e1

Other
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allele frequency: 0.0e0
allele num: 900
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
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num of homozygotes: 0

African
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allele count: 0
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allele num: 9804
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South Asian
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allele frequency: 6.06060606060606e-5
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East Asian
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allele count: 0
allele frequency: 0.0e0
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.308e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.29e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.37e-1

DP
type: SiteQuality
SIO_000300: 1.440264e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.98e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66702
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 5.308e0

MQRankSum
type: SiteQuality
SIO_000300: 6.18e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.37e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

QD
type: SiteQuality
SIO_000300: 1.191e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.37e-1

DP
type: SiteQuality
SIO_000300: 1.440264e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.98e-1

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

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499610101373643e-5
allele num: 66684
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.7e0

VQSLOD
type: SiteQuality
SIO_000300: -1.993e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.96e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.014e0

MQ
type: SiteQuality
SIO_000300: 5.88e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

DP
type: SiteQuality
SIO_000300: 1.439341e6

MQRankSum
type: SiteQuality
SIO_000300: 8.92e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.74e0

QD
type: SiteQuality
SIO_000300: 1.021e1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499790029395885e-5
allele num: 66676
num of homozygotes: 0

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

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.8e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.2e-1

FS
type: SiteQuality
SIO_000300: 7.85e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.702e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.04e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.32e-1

DP
type: SiteQuality
SIO_000300: 1.439228e6

QD
type: SiteQuality
SIO_000300: 1.135e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499835018148004e-5
allele num: 66674
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16444
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.27e0

MQ
type: SiteQuality
SIO_000300: 5.942e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.11e-1

FS
type: SiteQuality
SIO_000300: 5.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

MQRankSum
type: SiteQuality
SIO_000300: -8.999999999999999e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.85e-1

QD
type: SiteQuality
SIO_000300: 2.321e1

DP
type: SiteQuality
SIO_000300: 1.439576e6

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66620
num of homozygotes: 0

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

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

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

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

FS
type: SiteQuality
SIO_000300: 4.093e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.474e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -7.76e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.66e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.814e-1

QD
type: SiteQuality
SIO_000300: 8.380000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

DP
type: SiteQuality
SIO_000300: 1.435958e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.225e0

European (Finnish)
type: Population
allele count: 825
allele frequency: 1.248108925869894e-1
allele num: 6610
num of homozygotes: 61

South Asian
type: Population
allele count: 3393
allele frequency: 2.08877123861118e-1
allele num: 16244
num of homozygotes: 387

Other
type: Population
allele count: 84
allele frequency: 9.417040358744394e-2
allele num: 892
num of homozygotes: 4

Latino
type: Population
allele count: 416
allele frequency: 3.597371151850571e-2
allele num: 11564
num of homozygotes: 19

East Asian
type: Population
allele count: 335
allele frequency: 3.885409417768499e-2
allele num: 8622
num of homozygotes: 6

European (Non-Finnish)
type: Population
allele count: 4887
allele frequency: 7.340262549190424e-2
allele num: 66578
num of homozygotes: 208

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.23e-2

MQ
type: SiteQuality
SIO_000300: 5.968e1

MQRankSum
type: SiteQuality
SIO_000300: 6.900000000000001e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.54e0

QD
type: SiteQuality
SIO_000300: 1.483e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.36e-1

DP
type: SiteQuality
SIO_000300: 1.854513e6

VQSLOD
type: SiteQuality
SIO_000300: 6.71e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.04e-1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502990951994469e-5
allele num: 66534
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16080
num of homozygotes: 0

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

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

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

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

FS
type: SiteQuality
SIO_000300: 1.832e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.478316e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.4e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.134e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.53e0

QD
type: SiteQuality
SIO_000300: 8.109999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.51e0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503036132988637e-5
allele num: 66532
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9806
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16044
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159554730983302e-4
allele num: 8624
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.27e-1

FS
type: SiteQuality
SIO_000300: 7.414e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.232e0

MQRankSum
type: SiteQuality
SIO_000300: 3.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.477052e6

VQSLOD
type: SiteQuality
SIO_000300: 3.38e-1

QD
type: SiteQuality
SIO_000300: 1.005e1

MQ
type: SiteQuality
SIO_000300: 5.961e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.75e-1

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505842669557885e-5
allele num: 66408
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 6.55e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -5.4e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.52e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.467034e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.851e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -9.739e-1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15692
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 2
allele frequency: 1.732201628269531e-4
allele num: 11546
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 8.9e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.08e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.183e0

FS
type: SiteQuality
SIO_000300: 6.21e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.44e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

DP
type: SiteQuality
SIO_000300: 1.467057e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.597e1

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.015317814497648e-5
allele num: 66328
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15482
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.459916e6

MQRankSum
type: SiteQuality
SIO_000300: -4.13e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.1e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.78e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.7e-1

QD
type: SiteQuality
SIO_000300: 1.023e1

MQ
type: SiteQuality
SIO_000300: 5.948e1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.021695775669306e-5
allele num: 66188
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 1.8933e1

MQRankSum
type: SiteQuality
SIO_000300: -2.87e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.659999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.449391e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.07e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.144e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.039e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.59e0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14820
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66028
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.69414014953921e-5
allele num: 11502
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 6.55e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.437093e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.29e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.098e-1

FS
type: SiteQuality
SIO_000300: 1.507e0

MQRankSum
type: SiteQuality
SIO_000300: 5.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -5.23e-1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14756
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11496
num of homozygotes: 0

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

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

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

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

DP
type: SiteQuality
SIO_000300: 1.435213e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

FS
type: SiteQuality
SIO_000300: 9.499000000000001e0

QD
type: SiteQuality
SIO_000300: 9.73e0

VQSLOD
type: SiteQuality
SIO_000300: -7.591e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.21e0

MQRankSum
type: SiteQuality
SIO_000300: 1.04e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.378e0

South Asian
type: Population
allele count: 3
allele frequency: 2.070965069722491e-4
allele num: 14486
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65834
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.44e-1

QD
type: SiteQuality
SIO_000300: 1.152e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.69e-1

DP
type: SiteQuality
SIO_000300: 1.424419e6

VQSLOD
type: SiteQuality
SIO_000300: 6.24e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

FS
type: SiteQuality
SIO_000300: 4.473e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.276e0

MQ
type: SiteQuality
SIO_000300: 5.925e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65266
num of homozygotes: 0

South Asian
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allele count: 1
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East Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 850
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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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African
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ClippingRankSum
type: SiteQuality
SIO_000300: 4.54e-1

FS
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
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MQ
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 2.73e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.08e-1

South Asian
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Latino
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European (Finnish)
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allele frequency: 0.0e0
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African
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East Asian
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Other
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
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InbreedingCoeff
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
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QD
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FS
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ReadPosRankSum
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DP
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Other
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Latino
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European (Non-Finnish)
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African
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European (Finnish)
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East Asian
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QD
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MQRankSum
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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FS
type: SiteQuality
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MQ
type: SiteQuality
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Latino
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East Asian
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Other
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African
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European (Non-Finnish)
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allele num: 63632
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European (Finnish)
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
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MQ
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 5.649999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.707e1

Latino
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East Asian
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African
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.577685220244857e-5
allele num: 63384
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South Asian
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QD
type: SiteQuality
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VQSLOD
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MQ
type: SiteQuality
SIO_000300: 5.845e1

ReadPosRankSum
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -9.93e-1

Latino
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African
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East Asian
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South Asian
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European (Finnish)
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allele num: 6422
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Other
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VQSLOD
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QD
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BaseQRankSum
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FS
type: SiteQuality
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DP
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InbreedingCoeff
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 9.1e-1

European (Non-Finnish)
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allele num: 63204
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European (Finnish)
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allele num: 6418
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South Asian
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African
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Latino
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Other
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.14e-1

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -4.36e-1

DP
type: SiteQuality
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African
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South Asian
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Other
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6418
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.582178343142839e-5
allele num: 63204
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East Asian
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
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BaseQRankSum
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.14e-1

European (Non-Finnish)
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South Asian
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East Asian
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African
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Latino
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European (Finnish)
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BaseQRankSum
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QD
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MQ
type: SiteQuality
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DP
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ClippingRankSum
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

European (Non-Finnish)
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Other
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European (Finnish)
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East Asian
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South Asian
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African
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
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MQRankSum
type: SiteQuality
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ClippingRankSum
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FS
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InbreedingCoeff
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QD
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MQ
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BaseQRankSum
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South Asian
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European (Finnish)
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African
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East Asian
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Latino
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Other
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MQ
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DP
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FS
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
type: SiteQuality
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VQSLOD
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QD
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ClippingRankSum
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South Asian
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East Asian
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European (Non-Finnish)
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African
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European (Finnish)
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Other
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MQRankSum
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InbreedingCoeff
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FS
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DP
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QD
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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MQ
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ClippingRankSum
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Latino
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European (Non-Finnish)
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European (Finnish)
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African
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East Asian
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South Asian
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QD
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FS
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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InbreedingCoeff
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MQ
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DP
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MQRankSum
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East Asian
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European (Finnish)
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African
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European (Non-Finnish)
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Latino
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Other
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FS
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ClippingRankSum
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DP
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VQSLOD
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InbreedingCoeff
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QD
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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MQ
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South Asian
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European (Finnish)
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African
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Latino
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European (Non-Finnish)
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East Asian
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MQ
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VQSLOD
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QD
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FS
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DP
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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European (Non-Finnish)
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African
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European (Finnish)
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Other
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South Asian
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Latino
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num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.75e0

DP
type: SiteQuality
SIO_000300: 3.208977e6

MQRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

QD
type: SiteQuality
SIO_000300: 1.05e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

FS
type: SiteQuality
SIO_000300: 2.507e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.751e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.41e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.77e0

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

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

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -1.987e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.8e0

QD
type: SiteQuality
SIO_000300: 1.078e1

MQRankSum
type: SiteQuality
SIO_000300: -1.234e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.07e0

DP
type: SiteQuality
SIO_000300: 3.209058e6

FS
type: SiteQuality
SIO_000300: 8.196999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.957e0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.996883241428914e-5
allele num: 66736
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.963e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.35e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.94e-2

QD
type: SiteQuality
SIO_000300: 1.207e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.26e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.396e0

DP
type: SiteQuality
SIO_000300: 3.209234e6

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

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

African
type: Population
allele count: 1
allele frequency: 1.019160211985324e-4
allele num: 9812
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -9.91e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.2e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.31e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.29e0

QD
type: SiteQuality
SIO_000300: 1.124e1