1-45291948-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45291948
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45291948
    reference: chr 1
allele count: 2
allele frequency: 1.662786830728301e-5
allele num: 120280
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000389703
  ensembl transcript: ENST00000447098
  gene symbol: PTCH2
  hgvsc: ENST00000447098.2:c.3088G>A
  hgvsp: ENSP00000389703.2:p.Val1030Ile
  variant of: http://identifiers.org/hgnc/9586
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000361266
  ensembl transcript: ENST00000372192
  gene symbol: PTCH2
  hgvsc: ENST00000372192.3:c.3088G>A
  hgvsp: ENSP00000361266.3:p.Val1030Ile
  variant of: http://identifiers.org/hgnc/9586
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16750
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2228
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2038
  bin: 9.75e1
  variant carriers: 2
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: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2701
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2916
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val1030Ile
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6488
  num of homozygotes: 0
population: African
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum

1-45291949-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45291949
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45291949
    reference: chr 1
allele count: 1
allele frequency: 8.311032063961702e-6
allele num: 120322
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000361266
  ensembl transcript: ENST00000372192
  gene symbol: PTCH2
  hgvsc: ENST00000372192.3:c.3087C>T
  hgvsp: ENST00000372192.3:c.3087C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9586
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000389703
  ensembl transcript: ENST00000447098
  gene symbol: PTCH2
  hgvsc: ENST00000447098.2:c.3087C>T
  hgvsp: ENST00000447098.2:c.3087C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9586
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7191
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31398
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  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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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
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genotype quality: GenotypeQuality
  all individuals: 2036
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 176
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 574
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genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 111
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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: 761
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gly1029Gly
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16466
  num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

1-45291953-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45291953
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45291953
    reference: chr 1
allele count: 1
allele frequency: 8.29655195300833e-6
allele num: 120532
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000389703
  ensembl transcript: ENST00000447098
  gene symbol: PTCH2
  hgvsc: ENST00000447098.2:c.3083T>C
  hgvsp: ENSP00000389703.2:p.Ile1028Thr
  variant of: http://identifiers.org/hgnc/9586
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000361266
  ensembl transcript: ENST00000372192
  gene symbol: PTCH2
  hgvsc: ENST00000372192.3:c.3083T>C
  hgvsp: ENSP00000361266.3:p.Ile1028Thr
  variant of: http://identifiers.org/hgnc/9586
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31408
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7202
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
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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: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
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genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
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genotype depth: GenotypeDepth
  all individuals: 24
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
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genotype quality: GenotypeQuality
  all individuals: 5
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 99
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 1602
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ile1028Thr
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 900
  num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

1-45291960-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45291960
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45291960
    reference: chr 1
allele count: 1
allele frequency: 8.282533792737874e-6
allele num: 120736
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000389703
  ensembl transcript: ENST00000447098
  gene symbol: PTCH2
  hgvsc: ENST00000447098.2:c.3076G>A
  hgvsp: ENSP00000389703.2:p.Val1026Ile
  variant of: http://identifiers.org/hgnc/9586
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000361266
  ensembl transcript: ENST00000372192
  gene symbol: PTCH2
  hgvsc: ENST00000372192.3:c.3076G>A
  hgvsp: ENSP00000361266.3:p.Val1026Ile
  variant of: http://identifiers.org/hgnc/9586
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
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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: 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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  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: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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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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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
  all individuals: 2940
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 788
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val1026Ile
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8640
  num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

1-45291965-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45291965
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45291965
    reference: chr 1
allele count: 15
allele frequency: 1.241105411219593e-4
allele num: 120860
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000361266
  ensembl transcript: ENST00000372192
  gene symbol: PTCH2
  hgvsc: ENST00000372192.3:c.3071C>T
  hgvsp: ENSP00000361266.3:p.Ala1024Val
  variant of: http://identifiers.org/hgnc/9586
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000389703
  ensembl transcript: ENST00000447098
  gene symbol: PTCH2
  hgvsc: ENST00000447098.2:c.3071C>T
  hgvsp: ENSP00000389703.2:p.Ala1024Val
  variant of: http://identifiers.org/hgnc/9586
canonical: true
consequence: missense
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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: 218
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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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  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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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40548
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala1024Val
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6560
  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: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

1-45291967-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45291967
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45291967
    reference: chr 1
allele count: 1
allele frequency: 8.272667107875579e-6
allele num: 120880
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000389703
  ensembl transcript: ENST00000447098
  gene symbol: PTCH2
  hgvsc: ENST00000447098.2:c.3069G>A
  hgvsp: ENST00000447098.2:c.3069G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9586
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000361266
  ensembl transcript: ENST00000372192
  gene symbol: PTCH2
  hgvsc: ENST00000372192.3:c.3069G>A
  hgvsp: ENST00000372192.3:c.3069G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9586
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7270
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
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genotype depth: GenotypeDepth
  all individuals: 219
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 17
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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
  all individuals: 85
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  variant carriers: 0
hgvs: p.Val1023Val
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 902
  num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum

1-45291969-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45291969
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45291969
    reference: chr 1
allele count: 1
allele frequency: 8.269656974628692e-6
allele num: 120924
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000389703
  ensembl transcript: ENST00000447098
  gene symbol: PTCH2
  hgvsc: ENST00000447098.2:c.3067G>A
  hgvsp: ENSP00000389703.2:p.Val1023Met
  variant of: http://identifiers.org/hgnc/9586
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000361266
  ensembl transcript: ENST00000372192
  gene symbol: PTCH2
  hgvsc: ENST00000372192.3:c.3067G>A
  hgvsp: ENSP00000361266.3:p.Val1023Met
  variant of: http://identifiers.org/hgnc/9586
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
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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
  all individuals: 218
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 17
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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.Val1023Met
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 6.06060606060606e-5
  allele num: 16500
  num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ

1-45291971-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45291971
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45291971
    reference: chr 1
allele count: 1
allele frequency: 8.267059076404159e-6
allele num: 120962
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000389703
  ensembl transcript: ENST00000447098
  gene symbol: PTCH2
  hgvsc: ENST00000447098.2:c.3065T>C
  hgvsp: ENSP00000389703.2:p.Leu1022Pro
  variant of: http://identifiers.org/hgnc/9586
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000361266
  ensembl transcript: ENST00000372192
  gene symbol: PTCH2
  hgvsc: ENST00000372192.3:c.3065T>C
  hgvsp: ENSP00000361266.3:p.Leu1022Pro
  variant of: http://identifiers.org/hgnc/9586
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
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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 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: 1603
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hgvs: p.Leu1022Pro
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10324
  num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ

1-45291981-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45291981
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45291981
    reference: chr 1
allele count: 34
allele frequency: 2.808339115207982e-4
allele num: 121068
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000389703
  ensembl transcript: ENST00000447098
  gene symbol: PTCH2
  hgvsc: ENST00000447098.2:c.3055G>A
  hgvsp: ENSP00000389703.2:p.Val1019Met
  variant of: http://identifiers.org/hgnc/9586
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000361266
  ensembl transcript: ENST00000372192
  gene symbol: PTCH2
  hgvsc: ENST00000372192.3:c.3055G>A
  hgvsp: ENSP00000361266.3:p.Val1019Met
  variant of: http://identifiers.org/hgnc/9586
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17536
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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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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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
  all individuals: 27
  bin: 7.75e1
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genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8540
  bin: 6.75e1
  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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  bin: 2.5e0
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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: 1599
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 793
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2959
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  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: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 2732
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2058
  bin: 9.75e1
  variant carriers: 34
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Val1019Met
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 904
  num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: QD

1-45291982-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45291982
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45291982
    reference: chr 1
allele count: 3
allele frequency: 2.477618843117175e-5
allele num: 121084
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000389703
  ensembl transcript: ENST00000447098
  gene symbol: PTCH2
  hgvsc: ENST00000447098.2:c.3054C>T
  hgvsp: ENST00000447098.2:c.3054C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9586
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000361266
  ensembl transcript: ENST00000372192
  gene symbol: PTCH2
  hgvsc: ENST00000372192.3:c.3054C>T
  hgvsp: ENST00000372192.3:c.3054C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9586
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  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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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31291
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
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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: 1
genotype depth: GenotypeDepth
  all individuals: 2253
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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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  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 758
  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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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: 40795
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 57
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 794
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro1018Pro
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10348
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

1-45291988-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45291988
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45291988
    reference: chr 1
allele count: 3
allele frequency: 2.476759737793703e-5
allele num: 121126
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000389703
  ensembl transcript: ENST00000447098
  gene symbol: PTCH2
  hgvsc: ENST00000447098.2:c.3048C>T
  hgvsp: ENST00000447098.2:c.3048C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9586
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000361266
  ensembl transcript: ENST00000372192
  gene symbol: PTCH2
  hgvsc: ENST00000372192.3:c.3048C>T
  hgvsp: ENST00000372192.3:c.3048C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9586
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31300
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7338
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  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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  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: 1
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2246
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
  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
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala1016Ala
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 904
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/1-45291994-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45291994
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45291994
    reference: chr 1
allele count: 1
allele frequency: 8.254366559910193e-6
allele num: 121148
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000389703
  ensembl transcript: ENST00000447098
  gene symbol: PTCH2
  hgvsc: ENST00000447098.2:c.3042G>T
  hgvsp: ENST00000447098.2:c.3042G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9586
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000361266
  ensembl transcript: ENST00000372192
  gene symbol: PTCH2
  hgvsc: ENST00000372192.3:c.3042G>T
  hgvsp: ENST00000372192.3:c.3042G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9586
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7345
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
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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: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  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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  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1600
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu1014Leu
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 904
  num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: DP

1-45291994-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45291994
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45291994
    reference: chr 1
allele count: 1
allele frequency: 8.254366559910193e-6
allele num: 121148
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000389703
  ensembl transcript: ENST00000447098
  gene symbol: PTCH2
  hgvsc: ENST00000447098.2:c.3042G>C
  hgvsp: ENST00000447098.2:c.3042G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9586
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000361266
  ensembl transcript: ENST00000372192
  gene symbol: PTCH2
  hgvsc: ENST00000372192.3:c.3042G>C
  hgvsp: ENST00000372192.3:c.3042G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9586
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2251
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31277
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
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genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2024
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genotype quality: GenotypeQuality
  all individuals: 8567
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2745
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40876
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1600
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu1014Leu
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6608
  num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum

1-45292014-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45292014
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45292014
    reference: chr 1
allele count: 1
allele frequency: 8.250961236984109e-6
allele num: 121198
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000361266
  ensembl transcript: ENST00000372192
  gene symbol: PTCH2
  hgvsc: ENST00000372192.3:c.3022G>A
  hgvsp: ENSP00000361266.3:p.Gly1008Ser
  variant of: http://identifiers.org/hgnc/9586
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000389703
  ensembl transcript: ENST00000447098
  gene symbol: PTCH2
  hgvsc: ENST00000447098.2:c.3022G>A
  hgvsp: ENSP00000389703.2:p.Gly1008Ser
  variant of: http://identifiers.org/hgnc/9586
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17688
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7351
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
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genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31297
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2246
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 16
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 1600
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genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 132
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 757
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 28
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genotype quality: GenotypeQuality
  all individuals: 40989
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genotype quality: GenotypeQuality
  all individuals: 2022
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 795
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2967
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly1008Ser
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6612
  num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: QD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

1-45292018-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45292018
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45292018
    reference: chr 1
allele count: 1
allele frequency: 8.250688932525866e-6
allele num: 121202
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000389703
  ensembl transcript: ENST00000447098
  gene symbol: PTCH2
  hgvsc: ENST00000447098.2:c.3018C>G
  hgvsp: ENSP00000389703.2:p.Ile1006Met
  variant of: http://identifiers.org/hgnc/9586
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000361266
  ensembl transcript: ENST00000372192
  gene symbol: PTCH2
  hgvsc: ENST00000372192.3:c.3018C>G
  hgvsp: ENSP00000361266.3:p.Ile1006Met
  variant of: http://identifiers.org/hgnc/9586
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
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genotype depth: GenotypeDepth
  all individuals: 12
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31291
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genotype depth: GenotypeDepth
  all individuals: 99
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
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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: 7350
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genotype depth: GenotypeDepth
  all individuals: 18
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2248
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1599
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 2967
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ile1006Met
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66608
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: FS
site quality: DP

1-45292022-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45292022
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45292022
    reference: chr 1
allele count: 2
allele frequency: 1.650192247396822e-5
allele num: 121198
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000389703
  ensembl transcript: ENST00000447098
  gene symbol: PTCH2
  hgvsc: ENST00000447098.2:c.3014G>A
  hgvsp: ENSP00000389703.2:p.Gly1005Asp
  variant of: http://identifiers.org/hgnc/9586
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000361266
  ensembl transcript: ENST00000372192
  gene symbol: PTCH2
  hgvsc: ENST00000372192.3:c.3014G>A
  hgvsp: ENSP00000361266.3:p.Gly1005Asp
  variant of: http://identifiers.org/hgnc/9586
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17690
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7347
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genotype depth: GenotypeDepth
  all individuals: 916
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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: 80
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genotype depth: GenotypeDepth
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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: 99
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 217
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
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genotype depth: GenotypeDepth
  all individuals: 2247
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
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genotype quality: GenotypeQuality
  all individuals: 2965
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 8573
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  variant carriers: 0
hgvs: p.Gly1005Asp
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: Latino
population: Other
population: South Asian
population: African
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ

1-45292024-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45292024
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45292024
    reference: chr 1
allele count: 1
allele frequency: 8.250144377526608e-6
allele num: 121210
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000389703
  ensembl transcript: ENST00000447098
  gene symbol: PTCH2
  hgvsc: ENST00000447098.2:c.3012T>C
  hgvsp: ENST00000447098.2:c.3012T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9586
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000361266
  ensembl transcript: ENST00000372192
  gene symbol: PTCH2
  hgvsc: ENST00000372192.3:c.3012T>C
  hgvsp: ENST00000372192.3:c.3012T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9586
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17690
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
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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: 916
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2966
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 758
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1599
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Phe1004Phe
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6612
  num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff

1-45292027-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45292027
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45292027
    reference: chr 1
allele count: 1
allele frequency: 8.250416646040625e-6
allele num: 121206
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000361266
  ensembl transcript: ENST00000372192
  gene symbol: PTCH2
  hgvsc: ENST00000372192.3:c.3009C>A
  hgvsp: ENST00000372192.3:c.3009C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9586
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000389703
  ensembl transcript: ENST00000447098
  gene symbol: PTCH2
  hgvsc: ENST00000447098.2:c.3009C>A
  hgvsp: ENST00000447098.2:c.3009C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9586
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31293
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2246
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7347
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17692
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2744
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  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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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2022
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu1003Leu
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8646
  num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

1-45292040-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45292040
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45292040
    reference: chr 1
allele count: 1
allele frequency: 8.250688932525866e-6
allele num: 121202
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000361266
  ensembl transcript: ENST00000372192
  gene symbol: PTCH2
  hgvsc: ENST00000372192.3:c.2996T>A
  hgvsp: ENSP00000361266.3:p.Met999Lys
  variant of: http://identifiers.org/hgnc/9586
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000389703
  ensembl transcript: ENST00000447098
  gene symbol: PTCH2
  hgvsc: ENST00000447098.2:c.2996T>A
  hgvsp: ENSP00000389703.2:p.Met999Lys
  variant of: http://identifiers.org/hgnc/9586
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2250
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
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genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1597
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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: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 13
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 761
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Met999Lys
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8640
  num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
reference allele: A
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ

1-45292045-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45292045
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45292045
    reference: chr 1
allele count: 9
allele frequency: 7.42647786909595e-5
allele num: 121188
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000389703
  ensembl transcript: ENST00000447098
  gene symbol: PTCH2
  hgvsc: ENST00000447098.2:c.2991G>A
  hgvsp: ENST00000447098.2:c.2991G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9586
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000361266
  ensembl transcript: ENST00000372192
  gene symbol: PTCH2
  hgvsc: ENST00000372192.3:c.2991G>A
  hgvsp: ENST00000372192.3:c.2991G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9586
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31249
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17702
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7344
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 2
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
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  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 2740
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genotype quality: GenotypeQuality
  all individuals: 11
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  variant carriers: 0
hgvs: p.Ala997Ala
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8640
  num of homozygotes: 0
population: South Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

1-45292046-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45292046
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45292046
    reference: chr 1
allele count: 2
allele frequency: 1.650464605786529e-5
allele num: 121178
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000389703
  ensembl transcript: ENST00000447098
  gene symbol: PTCH2
  hgvsc: ENST00000447098.2:c.2990C>T
  hgvsp: ENSP00000389703.2:p.Ala997Val
  variant of: http://identifiers.org/hgnc/9586
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000361266
  ensembl transcript: ENST00000372192
  gene symbol: PTCH2
  hgvsc: ENST00000372192.3:c.2990C>T
  hgvsp: ENSP00000361266.3:p.Ala997Val
  variant of: http://identifiers.org/hgnc/9586
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  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 depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2741
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala997Val
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10362
  num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

1-45292058-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45292058
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45292058
    reference: chr 1
allele count: 1
allele frequency: 8.255456856982466e-6
allele num: 121132
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000389703
  ensembl transcript: ENST00000447098
  gene symbol: PTCH2
  hgvsc: ENST00000447098.2:c.2978T>C
  hgvsp: ENSP00000389703.2:p.Val993Ala
  variant of: http://identifiers.org/hgnc/9586
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000361266
  ensembl transcript: ENST00000372192
  gene symbol: PTCH2
  hgvsc: ENST00000372192.3:c.2978T>C
  hgvsp: ENSP00000361266.3:p.Val993Ala
  variant of: http://identifiers.org/hgnc/9586
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31174
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17710
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2249
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7340
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1598
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8546
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2965
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40896
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 796
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2021
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2736
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Val993Ala
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: VQSLOD

1-45292071-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45292071
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45292071
    reference: chr 1
allele count: 2
allele frequency: 1.652100645971353e-5
allele num: 121058
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000389703
  ensembl transcript: ENST00000447098
  gene symbol: PTCH2
  hgvsc: ENST00000447098.2:c.2977-12T>C
  variant of: http://identifiers.org/hgnc/9586
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000361266
  ensembl transcript: ENST00000372192
  gene symbol: PTCH2
  hgvsc: ENST00000372192.3:c.2977-12T>C
  variant of: http://identifiers.org/hgnc/9586
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31081
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17674
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7321
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2250
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2952
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8526
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1595
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40774
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2730
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2021
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 794
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 906
  num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP

1-45292072-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45292072
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45292072
    reference: chr 1
allele count: 1
allele frequency: 8.260503229856763e-6
allele num: 121058
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000361266
  ensembl transcript: ENST00000372192
  gene symbol: PTCH2
  hgvsc: ENST00000372192.3:c.2977-13C>T
  variant of: http://identifiers.org/hgnc/9586
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000389703
  ensembl transcript: ENST00000447098
  gene symbol: PTCH2
  hgvsc: ENST00000447098.2:c.2977-13C>T
  variant of: http://identifiers.org/hgnc/9586
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7333
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31070
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17672
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2252
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 1595
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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: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40798
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 794
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
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genotype quality: GenotypeQuality
  all individuals: 2730
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2021
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2951
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16490
  num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD

1-45292074-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45292074
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45292074
    reference: chr 1
allele count: 1
allele frequency: 8.261868173631421e-6
allele num: 121038
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000389703
  ensembl transcript: ENST00000447098
  gene symbol: PTCH2
  hgvsc: ENST00000447098.2:c.2977-15C>T
  variant of: http://identifiers.org/hgnc/9586
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000361266
  ensembl transcript: ENST00000372192
  gene symbol: PTCH2
  hgvsc: ENST00000372192.3:c.2977-15C>T
  variant of: http://identifiers.org/hgnc/9586
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2250
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7330
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17652
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31038
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2728
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 794
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2021
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genotype quality: GenotypeQuality
  all individuals: 40697
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1596
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16488
  num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff

1-45292081-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45292081
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45292081
    reference: chr 1
allele count: 1
allele frequency: 8.266102367411717e-6
allele num: 120976
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000389703
  ensembl transcript: ENST00000447098
  gene symbol: PTCH2
  hgvsc: ENST00000447098.2:c.2977-22C>T
  variant of: http://identifiers.org/hgnc/9586
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000361266
  ensembl transcript: ENST00000372192
  gene symbol: PTCH2
  hgvsc: ENST00000372192.3:c.2977-22C>T
  variant of: http://identifiers.org/hgnc/9586
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30966
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 10342
  num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
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site quality: MQ
site quality: QD

1-45292105-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45292105
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45292105
    reference: chr 1
allele count: 1
allele frequency: 8.288712431410904e-6
allele num: 120646
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000361266
  ensembl transcript: ENST00000372192
  gene symbol: PTCH2
  hgvsc: ENST00000372192.3:c.2977-46G>A
  variant of: http://identifiers.org/hgnc/9586
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000389703
  ensembl transcript: ENST00000447098
  gene symbol: PTCH2
  hgvsc: ENST00000447098.2:c.2977-46G>A
  variant of: http://identifiers.org/hgnc/9586
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 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: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 900
  num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: DP
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site quality: VQSLOD
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site quality: MQ
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1-45292119-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45292119
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45292119
    reference: chr 1
allele count: 3
allele frequency: 2.491777135453005e-5
allele num: 120396
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000389703
  ensembl transcript: ENST00000447098
  gene symbol: PTCH2
  hgvsc: ENST00000447098.2:c.2976+41T>C
  variant of: http://identifiers.org/hgnc/9586
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000361266
  ensembl transcript: ENST00000372192
  gene symbol: PTCH2
  hgvsc: ENST00000372192.3:c.2976+41T>C
  variant of: http://identifiers.org/hgnc/9586
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
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  allele frequency: 4.534873174713547e-5
  allele num: 66154
  num of homozygotes: 0
population: African
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
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site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD

1-45292124-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45292124
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45292124
    reference: chr 1
allele count: 1
allele frequency: 8.370862701109976e-6
allele num: 119462
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000361266
  ensembl transcript: ENST00000372192
  gene symbol: PTCH2
  hgvsc: ENST00000372192.3:c.2976+36A>C
  variant of: http://identifiers.org/hgnc/9586
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000389703
  ensembl transcript: ENST00000447098
  gene symbol: PTCH2
  hgvsc: ENST00000447098.2:c.2976+36A>C
  variant of: http://identifiers.org/hgnc/9586
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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population: Latino
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  allele num: 11432
  num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
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site quality: FS
site quality: VQSLOD
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1-45292134-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45292134
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45292134
    reference: chr 1
allele count: 1
allele frequency: 8.327920185212944e-6
allele num: 120078
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000361266
  ensembl transcript: ENST00000372192
  gene symbol: PTCH2
  hgvsc: ENST00000372192.3:c.2976+26G>A
  variant of: http://identifiers.org/hgnc/9586
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000389703
  ensembl transcript: ENST00000447098
  gene symbol: PTCH2
  hgvsc: ENST00000447098.2:c.2976+26G>A
  variant of: http://identifiers.org/hgnc/9586
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 202
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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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  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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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: 2.5e0
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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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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 65970
  num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum

1-45292136-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45292136
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45292136
    reference: chr 1
allele count: 5
allele frequency: 4.16382138871771e-5
allele num: 120082
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000389703
  ensembl transcript: ENST00000447098
  gene symbol: PTCH2
  hgvsc: ENST00000447098.2:c.2976+24C>G
  variant of: http://identifiers.org/hgnc/9586
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000361266
  ensembl transcript: ENST00000372192
  gene symbol: PTCH2
  hgvsc: ENST00000372192.3:c.2976+24C>G
  variant of: http://identifiers.org/hgnc/9586
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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: European (Non-Finnish)
  type: Population
  allele count: 4
  allele frequency: 6.062075654704171e-5
  allele num: 65984
  num of homozygotes: 0
population: Other
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

1-45292141-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45292141
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45292141
    reference: chr 1
allele count: 1
allele frequency: 8.331666999933347e-6
allele num: 120024
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000361266
  ensembl transcript: ENST00000372192
  gene symbol: PTCH2
  hgvsc: ENST00000372192.3:c.2976+19G>A
  variant of: http://identifiers.org/hgnc/9586
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000389703
  ensembl transcript: ENST00000447098
  gene symbol: PTCH2
  hgvsc: ENST00000447098.2:c.2976+19G>A
  variant of: http://identifiers.org/hgnc/9586
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 417
  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 depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 65950
  num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

1-45292152-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45292152
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45292152
    reference: chr 1
allele count: 1
allele frequency: 8.337502084375522e-6
allele num: 119940
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000389703
  ensembl transcript: ENST00000447098
  gene symbol: PTCH2
  hgvsc: ENST00000447098.2:c.2976+8C>T
  variant of: http://identifiers.org/hgnc/9586
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000361266
  ensembl transcript: ENST00000372192
  gene symbol: PTCH2
  hgvsc: ENST00000372192.3:c.2976+8C>T
  variant of: http://identifiers.org/hgnc/9586
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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hgvs: c.2976+8C>T
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8624
  num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: African
reference allele: G
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff

1-45292158-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45292158
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45292158
    reference: chr 1
allele count: 3
allele frequency: 2.502043335390569e-5
allele num: 119902
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000361266
  ensembl transcript: ENST00000372192
  gene symbol: PTCH2
  hgvsc: ENST00000372192.3:c.2976+2T>C
  variant of: http://identifiers.org/hgnc/9586
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000389703
  ensembl transcript: ENST00000447098
  gene symbol: PTCH2
  hgvsc: ENST00000447098.2:c.2976+2T>C
  variant of: http://identifiers.org/hgnc/9586
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  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: 1533
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 9.25e1
  variant carriers: 0
hgvs: c.2976+2T>C
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10200
  num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

1-45292159-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45292159
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45292159
    reference: chr 1
allele count: 3
allele frequency: 2.502711270543088e-5
allele num: 119870
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000389703
  ensembl transcript: ENST00000447098
  gene symbol: PTCH2
  hgvsc: ENST00000447098.2:c.2976+1G>A
  variant of: http://identifiers.org/hgnc/9586
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000361266
  ensembl transcript: ENST00000372192
  gene symbol: PTCH2
  hgvsc: ENST00000372192.3:c.2976+1G>A
  variant of: http://identifiers.org/hgnc/9586
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2205
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17794
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27557
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1410
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7209
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2036
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36590
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 715
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8117
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2574
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1917
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1439
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1535
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2850
  bin: 7.25e1
  variant carriers: 0
hgvs: c.2976+1G>A
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 6.081245439065921e-5
  allele num: 16444
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQ

1-45292161-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45292161
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45292161
    reference: chr 1
allele count: 4
allele frequency: 3.336948360724118e-5
allele num: 119870
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000389703
  ensembl transcript: ENST00000447098
  gene symbol: PTCH2
  hgvsc: ENST00000447098.2:c.2975T>C
  hgvsp: ENSP00000389703.2:p.Ile992Thr
  variant of: http://identifiers.org/hgnc/9586
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000361266
  ensembl transcript: ENST00000372192
  gene symbol: PTCH2
  hgvsc: ENST00000372192.3:c.2975T>C
  hgvsp: ENSP00000361266.3:p.Ile992Thr
  variant of: http://identifiers.org/hgnc/9586
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7185
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2055
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2206
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17801
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27531
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2578
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1532
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2864
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8147
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1439
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36474
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1919
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 695
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ile992Thr
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD

1-45292173-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45292173
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45292173
    reference: chr 1
allele count: 5269
allele frequency: 4.403677392394484e-2
allele num: 119650
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000361266
  ensembl transcript: ENST00000372192
  gene symbol: PTCH2
  hgvsc: ENST00000372192.3:c.2963C>T
  hgvsp: ENSP00000361266.3:p.Thr988Met
  variant of: http://identifiers.org/hgnc/9586
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000389703
  ensembl transcript: ENST00000447098
  gene symbol: PTCH2
  hgvsc: ENST00000447098.2:c.2963C>T
  hgvsp: ENSP00000389703.2:p.Thr988Met
  variant of: http://identifiers.org/hgnc/9586
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1799
  bin: 1.75e1
  variant carriers: 161
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 5.25e1
  variant carriers: 288
genotype depth: GenotypeDepth
  all individuals: 26297
  bin: 2.25e1
  variant carriers: 387
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 7304
  bin: 3.25e1
  variant carriers: 832
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 17429
  bin: 2.75e1
  variant carriers: 704
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.75e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 7.5e0
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 4.75e1
  variant carriers: 457
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.25e1
  variant carriers: 72
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 108
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 4.25e1
  variant carriers: 625
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.75e1
  variant carriers: 218
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.25e1
  variant carriers: 166
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 2592
  bin: 3.75e1
  variant carriers: 838
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 1.25e1
  variant carriers: 50
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 9.25e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 584
  bin: 2.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2499
  bin: 7.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 4.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2137
  bin: 7.75e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 1397
  bin: 2.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 7.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 3.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 5.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 5.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 4.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 7403
  bin: 6.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 5987
  bin: 9.75e1
  variant carriers: 4916
genotype quality: GenotypeQuality
  all individuals: 1200
  bin: 8.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 3.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 34810
  bin: 6.25e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 584
  bin: 8.75e1
  variant carriers: 8
hgvs: p.Thr988Met
num of homozygotes: 225
population: Other
  type: Population
  allele count: 25
  allele frequency: 2.840909090909091e-2
  allele num: 880
  num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff

1-45292181-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45292181
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45292181
    reference: chr 1
allele count: 3
allele frequency: 2.505344735435596e-5
allele num: 119744
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000361266
  ensembl transcript: ENST00000372192
  gene symbol: PTCH2
  hgvsc: ENST00000372192.3:c.2955C>T
  hgvsp: ENST00000372192.3:c.2955C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9586
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000389703
  ensembl transcript: ENST00000447098
  gene symbol: PTCH2
  hgvsc: ENST00000447098.2:c.2955C>T
  hgvsp: ENST00000447098.2:c.2955C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9586
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19056
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26676
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2193
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7635
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37718
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2969
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8486
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1501
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1449
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1456
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2531
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asn985Asn
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 884
  num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

1-45292182-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45292182
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45292182
    reference: chr 1
allele count: 1
allele frequency: 8.353102342209896e-6
allele num: 119716
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000389703
  ensembl transcript: ENST00000447098
  gene symbol: PTCH2
  hgvsc: ENST00000447098.2:c.2954A>G
  hgvsp: ENSP00000389703.2:p.Asn985Ser
  variant of: http://identifiers.org/hgnc/9586
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000361266
  ensembl transcript: ENST00000372192
  gene symbol: PTCH2
  hgvsc: ENST00000372192.3:c.2954A>G
  hgvsp: ENSP00000361266.3:p.Asn985Ser
  variant of: http://identifiers.org/hgnc/9586
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2201
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19091
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7618
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26645
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1460
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2961
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8475
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2526
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1455
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 712
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1495
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 37585
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asn985Ser
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10178
  num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

1-45292184-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45292184
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45292184
    reference: chr 1
allele count: 1
allele frequency: 8.355196096452384e-6
allele num: 119686
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000361266
  ensembl transcript: ENST00000372192
  gene symbol: PTCH2
  hgvsc: ENST00000372192.3:c.2952C>A
  hgvsp: ENST00000372192.3:c.2952C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9586
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000389703
  ensembl transcript: ENST00000447098
  gene symbol: PTCH2
  hgvsc: ENST00000447098.2:c.2952C>A
  hgvsp: ENST00000447098.2:c.2952C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9586
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26626
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  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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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1459
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  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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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37800
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genotype quality: GenotypeQuality
  all individuals: 2524
  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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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1496
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu984Leu
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 884
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ReadPosRankSum

1-45292190-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45292190
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45292190
    reference: chr 1
allele count: 1
allele frequency: 8.358268835358821e-6
allele num: 119642
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000361266
  ensembl transcript: ENST00000372192
  gene symbol: PTCH2
  hgvsc: ENST00000372192.3:c.2946G>A
  hgvsp: ENST00000372192.3:c.2946G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9586
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000389703
  ensembl transcript: ENST00000447098
  gene symbol: PTCH2
  hgvsc: ENST00000447098.2:c.2946G>A
  hgvsp: ENST00000447098.2:c.2946G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9586
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19416
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 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: 25
  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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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37068
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
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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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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
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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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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2962
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu982Leu
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6320
  num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD

1-45292196-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45292196
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45292196
    reference: chr 1
allele count: 2
allele frequency: 1.671793500066872e-5
allele num: 119632
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000389703
  ensembl transcript: ENST00000447098
  gene symbol: PTCH2
  hgvsc: ENST00000447098.2:c.2940T>C
  hgvsp: ENST00000447098.2:c.2940T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9586
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000361266
  ensembl transcript: ENST00000372192
  gene symbol: PTCH2
  hgvsc: ENST00000372192.3:c.2940T>C
  hgvsp: ENST00000372192.3:c.2940T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9586
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2196
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19485
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  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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  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
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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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  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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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2547
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala980Ala
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6314
  num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-45292203-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45292203
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45292203
    reference: chr 1
allele count: 3
allele frequency: 2.508864655114739e-5
allele num: 119576
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000361266
  ensembl transcript: ENST00000372192
  gene symbol: PTCH2
  hgvsc: ENST00000372192.3:c.2933T>C
  hgvsp: ENSP00000361266.3:p.Val978Ala
  variant of: http://identifiers.org/hgnc/9586
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000389703
  ensembl transcript: ENST00000447098
  gene symbol: PTCH2
  hgvsc: ENST00000447098.2:c.2933T>C
  hgvsp: ENSP00000389703.2:p.Val978Ala
  variant of: http://identifiers.org/hgnc/9586
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 90
  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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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  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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  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
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 348
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 652
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 411
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Val978Ala
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6308
  num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

1-45292204-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45292204
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45292204
    reference: chr 1
allele count: 2
allele frequency: 1.67319211591875e-5
allele num: 119532
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000389703
  ensembl transcript: ENST00000447098
  gene symbol: PTCH2
  hgvsc: ENST00000447098.2:c.2932G>A
  hgvsp: ENSP00000389703.2:p.Val978Ile
  variant of: http://identifiers.org/hgnc/9586
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000361266
  ensembl transcript: ENST00000372192
  gene symbol: PTCH2
  hgvsc: ENST00000372192.3:c.2932G>A
  hgvsp: ENSP00000361266.3:p.Val978Ile
  variant of: http://identifiers.org/hgnc/9586
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1296
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 1.75e1
  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 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: 11
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 2
genotype quality: GenotypeQuality
  all individuals: 3001
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  variant carriers: 0
hgvs: p.Val978Ile
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11482
  num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: DP

1-45292205-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45292205
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45292205
    reference: chr 1
allele count: 1
allele frequency: 8.365540664893172e-6
allele num: 119538
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000361266
  ensembl transcript: ENST00000372192
  gene symbol: PTCH2
  hgvsc: ENST00000372192.3:c.2931C>T
  hgvsp: ENST00000372192.3:c.2931C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9586
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000389703
  ensembl transcript: ENST00000447098
  gene symbol: PTCH2
  hgvsc: ENST00000447098.2:c.2931C>T
  hgvsp: ENST00000447098.2:c.2931C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9586
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1472
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 654
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  variant carriers: 0
hgvs: p.Leu977Leu
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 878
  num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD

1-45292207-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45292207
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45292207
    reference: chr 1
allele count: 1
allele frequency: 8.364980844193866e-6
allele num: 119546
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000361266
  ensembl transcript: ENST00000372192
  gene symbol: PTCH2
  hgvsc: ENST00000372192.3:c.2929C>T
  hgvsp: ENSP00000361266.3:p.Leu977Phe
  variant of: http://identifiers.org/hgnc/9586
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000389703
  ensembl transcript: ENST00000447098
  gene symbol: PTCH2
  hgvsc: ENST00000447098.2:c.2929C>T
  hgvsp: ENSP00000389703.2:p.Leu977Phe
  variant of: http://identifiers.org/hgnc/9586
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype 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
  all individuals: 283
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu977Phe
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 65672
  num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQ

1-45292211-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45292211
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45292211
    reference: chr 1
allele count: 1
allele frequency: 8.366240546148183e-6
allele num: 119528
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000361266
  ensembl transcript: ENST00000372192
  gene symbol: PTCH2
  hgvsc: ENST00000372192.3:c.2925T>C
  hgvsp: ENST00000372192.3:c.2925T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9586
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000389703
  ensembl transcript: ENST00000447098
  gene symbol: PTCH2
  hgvsc: ENST00000447098.2:c.2925T>C
  hgvsp: ENST00000447098.2:c.2925T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9586
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19759
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7749
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 4.75e1
  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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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2199
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8543
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 654
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 38133
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3040
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1580
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1479
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1455
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2555
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr975Thr
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8620
  num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

1-45292218-A-ACCAGCAGGATGCAGACGG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45292218
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45292236
    reference: chr 1
allele count: 1
allele frequency: 8.373806732540612e-6
allele num: 119420
alternate allele: ACCAGCAGGATGCAGACGG
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000389703
  ensembl transcript: ENST00000447098
  gene symbol: PTCH2
  hgvsp: ENSP00000389703.2:p.Ala967_Leu972dup
  variant of: http://identifiers.org/hgnc/9586
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000361266
  ensembl transcript: ENST00000372192
  gene symbol: PTCH2
  hgvsp: ENSP00000361266.3:p.Ala967_Leu972dup
  variant of: http://identifiers.org/hgnc/9586
canonical: true
consequence: inframe insertion
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7789
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19864
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25955
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2200
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2567
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8573
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genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38180
  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 656
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 132
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3051
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1646
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1479
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1468
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 702
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 273
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 162
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 279
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala967_Leu972dup
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8620
  num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

1-45292223-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45292223
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45292223
    reference: chr 1
allele count: 4
allele frequency: 3.351992759695639e-5
allele num: 119332
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000361266
  ensembl transcript: ENST00000372192
  gene symbol: PTCH2
  hgvsc: ENST00000372192.3:c.2913G>A
  hgvsp: ENST00000372192.3:c.2913G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9586
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000389703
  ensembl transcript: ENST00000447098
  gene symbol: PTCH2
  hgvsc: ENST00000447098.2:c.2913G>A
  hgvsp: ENST00000447098.2:c.2913G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9586
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7796
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2207
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19911
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1530
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25675
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1797
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 136
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8533
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38012
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 183
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 701
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 290
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 3035
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 2553
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genotype quality: GenotypeQuality
  all individuals: 435
  bin: 3.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1453
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu971Leu
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 4
  allele frequency: 2.433386056697895e-4
  allele num: 16438
  num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: VQSLOD

1-45292224-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45292224
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45292224
    reference: chr 1
allele count: 1
allele frequency: 8.378998877214151e-6
allele num: 119346
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000389703
  ensembl transcript: ENST00000447098
  gene symbol: PTCH2
  hgvsc: ENST00000447098.2:c.2912T>C
  hgvsp: ENSP00000389703.2:p.Leu971Pro
  variant of: http://identifiers.org/hgnc/9586
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000361266
  ensembl transcript: ENST00000372192
  gene symbol: PTCH2
  hgvsc: ENST00000372192.3:c.2912T>C
  hgvsp: ENSP00000361266.3:p.Leu971Pro
  variant of: http://identifiers.org/hgnc/9586
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2197
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1563
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19918
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25681
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7783
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 866
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 4.25e1
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genotype depth: GenotypeDepth
  all individuals: 387
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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: 30
  bin: 6.25e1
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genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1480
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 655
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genotype quality: GenotypeQuality
  all individuals: 702
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 273
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genotype quality: GenotypeQuality
  all individuals: 510
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 158
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1833
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 234
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genotype quality: GenotypeQuality
  all individuals: 116
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 309
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1458
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genotype quality: GenotypeQuality
  all individuals: 2564
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu971Pro
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8618
  num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

1-45292232-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45292232
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45292232
    reference: chr 1
allele count: 11
allele frequency: 9.229271894350007e-5
allele num: 119186
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000389703
  ensembl transcript: ENST00000447098
  gene symbol: PTCH2
  hgvsc: ENST00000447098.2:c.2904C>T
  hgvsp: ENST00000447098.2:c.2904C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9586
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000361266
  ensembl transcript: ENST00000372192
  gene symbol: PTCH2
  hgvsc: ENST00000372192.3:c.2904C>T
  hgvsp: ENST00000372192.3:c.2904C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9586
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7742
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19833
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37602
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 697
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2112
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8527
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1492
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 3024
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2553
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1453
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Val968Val
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16444
  num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

1-45292234-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45292234
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45292234
    reference: chr 1
allele count: 20
allele frequency: 1.679120141046092e-4
allele num: 119110
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000389703
  ensembl transcript: ENST00000447098
  gene symbol: PTCH2
  hgvsc: ENST00000447098.2:c.2902G>A
  hgvsp: ENSP00000389703.2:p.Val968Ile
  variant of: http://identifiers.org/hgnc/9586
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000361266
  ensembl transcript: ENST00000372192
  gene symbol: PTCH2
  hgvsc: ENST00000372192.3:c.2902G>A
  hgvsp: ENSP00000361266.3:p.Val968Ile
  variant of: http://identifiers.org/hgnc/9586
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25237
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7777
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2194
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19800
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37371
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3018
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1456
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8480
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1503
  bin: 9.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 650
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2537
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2132
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Val968Ile
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 872
  num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum

1-45292235-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45292235
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45292235
    reference: chr 1
allele count: 8
allele frequency: 6.717270101430779e-5
allele num: 119096
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000361266
  ensembl transcript: ENST00000372192
  gene symbol: PTCH2
  hgvsc: ENST00000372192.3:c.2901C>T
  hgvsp: ENST00000372192.3:c.2901C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9586
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000389703
  ensembl transcript: ENST00000447098
  gene symbol: PTCH2
  hgvsc: ENST00000447098.2:c.2901C>T
  hgvsp: ENST00000447098.2:c.2901C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9586
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2191
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25182
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19827
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7773
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1848
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3036
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8499
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1491
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2179
  bin: 2.25e1
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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
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 37511
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1457
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala967Ala
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 870
  num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Latino
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP

1-45292241-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45292241
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45292241
    reference: chr 1
allele count: 1
allele frequency: 8.417508417508417e-6
allele num: 118800
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000361266
  ensembl transcript: ENST00000372192
  gene symbol: PTCH2
  hgvsc: ENST00000372192.3:c.2895G>C
  hgvsp: ENST00000372192.3:c.2895G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9586
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000389703
  ensembl transcript: ENST00000447098
  gene symbol: PTCH2
  hgvsc: ENST00000447098.2:c.2895G>C
  hgvsp: ENST00000447098.2:c.2895G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9586
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7721
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2192
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24687
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19659
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1484
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 71
  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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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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  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1449
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genotype quality: GenotypeQuality
  all individuals: 663
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu965Leu
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 65172
  num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: South Asian
population: African
population: European (Finnish)
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-45292247-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45292247
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45292247
    reference: chr 1
allele count: 1
allele frequency: 8.446802040747373e-6
allele num: 118388
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000389703
  ensembl transcript: ENST00000447098
  gene symbol: PTCH2
  hgvsc: ENST00000447098.2:c.2889C>T
  hgvsp: ENST00000447098.2:c.2889C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9586
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000361266
  ensembl transcript: ENST00000372192
  gene symbol: PTCH2
  hgvsc: ENST00000372192.3:c.2889C>T
  hgvsp: ENST00000372192.3:c.2889C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9586
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19422
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1770
  bin: 1.75e1
  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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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35959
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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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  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: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2458
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2973
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8239
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1444
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Cys963Cys
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: Other
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: ReadPosRankSum

1-45292252-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45292252
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45292252
    reference: chr 1
allele count: 6
allele frequency: 5.085952598921778e-5
allele num: 117972
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000361266
  ensembl transcript: ENST00000372192
  gene symbol: PTCH2
  hgvsc: ENST00000372192.3:c.2884C>T
  hgvsp: ENSP00000361266.3:p.Arg962Cys
  variant of: http://identifiers.org/hgnc/9586
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000389703
  ensembl transcript: ENST00000447098
  gene symbol: PTCH2
  hgvsc: ENST00000447098.2:c.2884C>T
  hgvsp: ENSP00000389703.2:p.Arg962Cys
  variant of: http://identifiers.org/hgnc/9586
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19363
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2091
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24755
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2148
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1489
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 2966
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8178
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35919
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 731
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1446
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2504
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg962Cys
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11460
  num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQ

1-45292254-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45292254
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45292254
    reference: chr 1
allele count: 3
allele frequency: 2.547424553776132e-5
allele num: 117766
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000361266
  ensembl transcript: ENST00000372192
  gene symbol: PTCH2
  hgvsc: ENST00000372192.3:c.2882G>A
  hgvsp: ENSP00000361266.3:p.Arg961Gln
  variant of: http://identifiers.org/hgnc/9586
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000389703
  ensembl transcript: ENST00000447098
  gene symbol: PTCH2
  hgvsc: ENST00000447098.2:c.2882G>A
  hgvsp: ENSP00000389703.2:p.Arg961Gln
  variant of: http://identifiers.org/hgnc/9586
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19408
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2087
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1580
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7568
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24766
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2137
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2326
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2973
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8211
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1449
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1488
  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 650
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg961Gln
num of homozygotes: 0
population: African
  type: Population
  allele count: 2
  allele frequency: 2.067397146991937e-4
  allele num: 9674
  num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

1-45292255-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45292255
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45292255
    reference: chr 1
allele count: 1
allele frequency: 8.499498529586754e-6
allele num: 117654
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000361266
  ensembl transcript: ENST00000372192
  gene symbol: PTCH2
  hgvsc: ENST00000372192.3:c.2881C>T
  hgvsp: ENSP00000361266.3:p.Arg961Trp
  variant of: http://identifiers.org/hgnc/9586
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000389703
  ensembl transcript: ENST00000447098
  gene symbol: PTCH2
  hgvsc: ENST00000447098.2:c.2881C>T
  hgvsp: ENSP00000389703.2:p.Arg961Trp
  variant of: http://identifiers.org/hgnc/9586
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24684
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2160
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2091
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
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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: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7612
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2511
  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
  all individuals: 648
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 1488
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Arg961Trp
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11448
  num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

1-45292259-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45292259
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45292259
    reference: chr 1
allele count: 4
allele frequency: 3.4592500345925e-5
allele num: 115632
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000361266
  ensembl transcript: ENST00000372192
  gene symbol: PTCH2
  hgvsc: ENST00000372192.3:c.2877C>T
  hgvsp: ENST00000372192.3:c.2877C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9586
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000389703
  ensembl transcript: ENST00000447098
  gene symbol: PTCH2
  hgvsc: ENST00000447098.2:c.2877C>T
  hgvsp: ENST00000447098.2:c.2877C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9586
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
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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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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 4
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
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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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  bin: 2.5e0
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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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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  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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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34555
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly959Gly
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11350
  num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD

1-45292269-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45292269
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45292269
    reference: chr 1
allele count: 1
allele frequency: 8.485362749257531e-6
allele num: 117850
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000389703
  ensembl transcript: ENST00000447098
  gene symbol: PTCH2
  hgvsc: ENST00000447098.2:c.2867A>G
  hgvsp: ENSP00000389703.2:p.Gln956Arg
  variant of: http://identifiers.org/hgnc/9586
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000361266
  ensembl transcript: ENST00000372192
  gene symbol: PTCH2
  hgvsc: ENST00000372192.3:c.2867A>G
  hgvsp: ENSP00000361266.3:p.Gln956Arg
  variant of: http://identifiers.org/hgnc/9586
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20522
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24248
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2025
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2177
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7771
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2638
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8550
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3070
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2528
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1456
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37459
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 652
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1464
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 706
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gln956Arg
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11466
  num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum

1-45292273-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45292273
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45292273
    reference: chr 1
allele count: 1
allele frequency: 8.490550017830155e-6
allele num: 117778
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000361266
  ensembl transcript: ENST00000372192
  gene symbol: PTCH2
  hgvsc: ENST00000372192.3:c.2863G>A
  hgvsp: ENSP00000361266.3:p.Glu955Lys
  variant of: http://identifiers.org/hgnc/9586
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000389703
  ensembl transcript: ENST00000447098
  gene symbol: PTCH2
  hgvsc: ENST00000447098.2:c.2863G>A
  hgvsp: ENSP00000389703.2:p.Glu955Lys
  variant of: http://identifiers.org/hgnc/9586
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20482
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2176
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7769
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24142
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2076
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37251
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8531
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 650
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1449
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1465
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Glu955Lys
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9694
  num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

1-45292276-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45292276
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45292276
    reference: chr 1
allele count: 1
allele frequency: 8.494733265375467e-6
allele num: 117720
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000389703
  ensembl transcript: ENST00000447098
  gene symbol: PTCH2
  hgvsc: ENST00000447098.2:c.2860T>C
  hgvsp: ENSP00000389703.2:p.Trp954Arg
  variant of: http://identifiers.org/hgnc/9586
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000361266
  ensembl transcript: ENST00000372192
  gene symbol: PTCH2
  hgvsc: ENST00000372192.3:c.2860T>C
  hgvsp: ENSP00000361266.3:p.Trp954Arg
  variant of: http://identifiers.org/hgnc/9586
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2193
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20402
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7744
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2505
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1465
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 568
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1450
  bin: 8.25e1
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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: 2781
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Trp954Arg
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.549474728067185e-5
  allele num: 64538
  num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum

1-45292294-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45292294
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45292294
    reference: chr 1
allele count: 2
allele frequency: 1.707417019532851e-5
allele num: 117136
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000389703
  ensembl transcript: ENST00000447098
  gene symbol: PTCH2
  hgvsc: ENST00000447098.2:c.2842G>A
  hgvsp: ENSP00000389703.2:p.Gly948Ser
  variant of: http://identifiers.org/hgnc/9586
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000361266
  ensembl transcript: ENST00000372192
  gene symbol: PTCH2
  hgvsc: ENST00000372192.3:c.2842G>A
  hgvsp: ENSP00000361266.3:p.Gly948Ser
  variant of: http://identifiers.org/hgnc/9586
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19923
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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: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2782
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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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: 4.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2158
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 647
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2968
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly948Ser
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11430
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

1-45292295-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45292295
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45292295
    reference: chr 1
allele count: 1
allele frequency: 8.552417768503155e-6
allele num: 116926
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000361266
  ensembl transcript: ENST00000372192
  gene symbol: PTCH2
  hgvsc: ENST00000372192.3:c.2841C>T
  hgvsp: ENST00000372192.3:c.2841C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9586
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000389703
  ensembl transcript: ENST00000447098
  gene symbol: PTCH2
  hgvsc: ENST00000447098.2:c.2841C>T
  hgvsp: ENST00000447098.2:c.2841C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9586
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 23099
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2172
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19780
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7633
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2900
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 834
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8154
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35086
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2460
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2938
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1460
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 695
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3382
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1426
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser947Ser
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 1
  allele frequency: 1.167133520074697e-4
  allele num: 8568
  num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: ClippingRankSum

1-45292300-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45292300
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45292300
    reference: chr 1
allele count: 1
allele frequency: 8.553880895762407e-6
allele num: 116906
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000361266
  ensembl transcript: ENST00000372192
  gene symbol: PTCH2
  hgvsc: ENST00000372192.3:c.2836C>T
  hgvsp: ENSP00000361266.3:p.Pro946Ser
  variant of: http://identifiers.org/hgnc/9586
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000389703
  ensembl transcript: ENST00000447098
  gene symbol: PTCH2
  hgvsc: ENST00000447098.2:c.2836C>T
  hgvsp: ENSP00000389703.2:p.Pro946Ser
  variant of: http://identifiers.org/hgnc/9586
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1812
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  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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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8157
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3609
  bin: 2.25e1
  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
  all individuals: 545
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2930
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 9.25e1
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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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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 782
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro946Ser
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9602
  num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: MQ

1-45292306-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45292306
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45292306
    reference: chr 1
allele count: 1
allele frequency: 8.592689339909605e-6
allele num: 116378
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000389703
  ensembl transcript: ENST00000447098
  gene symbol: PTCH2
  hgvsc: ENST00000447098.2:c.2830G>A
  hgvsp: ENSP00000389703.2:p.Ala944Thr
  variant of: http://identifiers.org/hgnc/9586
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000361266
  ensembl transcript: ENST00000372192
  gene symbol: PTCH2
  hgvsc: ENST00000372192.3:c.2830G>A
  hgvsp: ENSP00000361266.3:p.Ala944Thr
  variant of: http://identifiers.org/hgnc/9586
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19067
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7416
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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: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1952
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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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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2912
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
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genotype quality: GenotypeQuality
  all individuals: 1406
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2431
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala944Thr
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 1
  allele frequency: 1.169043722235212e-4
  allele num: 8554
  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: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

1-45292312-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45292312
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45292312
    reference: chr 1
allele count: 1
allele frequency: 8.614748449345278e-6
allele num: 116080
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000389703
  ensembl transcript: ENST00000447098
  gene symbol: PTCH2
  hgvsc: ENST00000447098.2:c.2824G>C
  hgvsp: ENSP00000389703.2:p.Val942Leu
  variant of: http://identifiers.org/hgnc/9586
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000361266
  ensembl transcript: ENST00000372192
  gene symbol: PTCH2
  hgvsc: ENST00000372192.3:c.2824G>C
  hgvsp: ENSP00000361266.3:p.Val942Leu
  variant of: http://identifiers.org/hgnc/9586
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18789
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2045
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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: 22237
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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: 68
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
  all individuals: 626
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 2391
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Val942Leu
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9444
  num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

1-45292313-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45292313
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45292313
    reference: chr 1
allele count: 3
allele frequency: 2.591210613598673e-5
allele num: 115776
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000389703
  ensembl transcript: ENST00000447098
  gene symbol: PTCH2
  hgvsc: ENST00000447098.2:c.2823G>C
  hgvsp: ENST00000447098.2:c.2823G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9586
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000361266
  ensembl transcript: ENST00000372192
  gene symbol: PTCH2
  hgvsc: ENST00000372192.3:c.2823G>C
  hgvsp: ENST00000372192.3:c.2823G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9586
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2656
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3874
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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  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: 7.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
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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genotype quality: GenotypeQuality
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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
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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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7751
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly941Gly
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9366
  num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

1-45292324-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45292324
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45292324
    reference: chr 1
allele count: 2
allele frequency: 1.737619461337967e-5
allele num: 115100
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000389703
  ensembl transcript: ENST00000447098
  gene symbol: PTCH2
  hgvsc: ENST00000447098.2:c.2812G>A
  hgvsp: ENSP00000389703.2:p.Gly938Ser
  variant of: http://identifiers.org/hgnc/9586
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000361266
  ensembl transcript: ENST00000372192
  gene symbol: PTCH2
  hgvsc: ENST00000372192.3:c.2812G>A
  hgvsp: ENSP00000361266.3:p.Gly938Ser
  variant of: http://identifiers.org/hgnc/9586
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21765
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2019
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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: 6.75e1
  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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genotype quality: GenotypeQuality
  all individuals: 7317
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly938Ser
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 15824
  num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

1-45292325-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45292325
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45292325
    reference: chr 1
allele count: 5
allele frequency: 4.344501598776588e-5
allele num: 115088
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000361266
  ensembl transcript: ENST00000372192
  gene symbol: PTCH2
  hgvsc: ENST00000372192.3:c.2811C>T
  hgvsp: ENST00000372192.3:c.2811C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9586
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000389703
  ensembl transcript: ENST00000447098
  gene symbol: PTCH2
  hgvsc: ENST00000447098.2:c.2811C>T
  hgvsp: ENST00000447098.2:c.2811C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9586
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4471
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
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genotype depth: GenotypeDepth
  all individuals: 24
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2752
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 1490
  bin: 9.75e1
  variant carriers: 4
hgvs: p.Ala937Ala
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11368
  num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD

1-45292326-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45292326
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45292326
    reference: chr 1
allele count: 2
allele frequency: 1.737800639510635e-5
allele num: 115088
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000389703
  ensembl transcript: ENST00000447098
  gene symbol: PTCH2
  hgvsc: ENST00000447098.2:c.2810C>T
  hgvsp: ENSP00000389703.2:p.Ala937Val
  variant of: http://identifiers.org/hgnc/9586
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000361266
  ensembl transcript: ENST00000372192
  gene symbol: PTCH2
  hgvsc: ENST00000372192.3:c.2810C>T
  hgvsp: ENSP00000361266.3:p.Ala937Val
  variant of: http://identifiers.org/hgnc/9586
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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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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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 5003
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  variant carriers: 0
hgvs: p.Ala937Val
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11366
  num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

1-45292327-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45292327
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45292327
    reference: chr 1
allele count: 1
allele frequency: 8.695198511382016e-6
allele num: 115006
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000389703
  ensembl transcript: ENST00000447098
  gene symbol: PTCH2
  hgvsc: ENST00000447098.2:c.2809G>A
  hgvsp: ENSP00000389703.2:p.Ala937Thr
  variant of: http://identifiers.org/hgnc/9586
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000361266
  ensembl transcript: ENST00000372192
  gene symbol: PTCH2
  hgvsc: ENST00000372192.3:c.2809G>A
  hgvsp: ENSP00000361266.3:p.Ala937Thr
  variant of: http://identifiers.org/hgnc/9586
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17420
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2003
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
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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: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6723
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1566
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2336
  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: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 635
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 321
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5043
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 1378
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 614
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1484
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1572
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1274
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31032
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2754
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala937Thr
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 15756
  num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

1-45292333-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45292333
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45292333
    reference: chr 1
allele count: 6
allele frequency: 5.253112469137964e-5
allele num: 114218
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000389703
  ensembl transcript: ENST00000447098
  gene symbol: PTCH2
  hgvsc: ENST00000447098.2:c.2803G>A
  hgvsp: ENSP00000389703.2:p.Ala935Thr
  variant of: http://identifiers.org/hgnc/9586
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000361266
  ensembl transcript: ENST00000372192
  gene symbol: PTCH2
  hgvsc: ENST00000372192.3:c.2803G>A
  hgvsp: ENSP00000361266.3:p.Ala935Thr
  variant of: http://identifiers.org/hgnc/9586
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21576
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
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  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2621
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1962
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
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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: 4643
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 857
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genotype quality: GenotypeQuality
  all individuals: 680
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genotype quality: GenotypeQuality
  all individuals: 2678
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 5342
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 295
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 1573
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 1805
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 1875
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 1381
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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: 219
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1237
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala935Thr
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 15520
  num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP

1-45292334-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45292334
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45292334
    reference: chr 1
allele count: 1
allele frequency: 8.75242879899172e-6
allele num: 114254
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000361266
  ensembl transcript: ENST00000372192
  gene symbol: PTCH2
  hgvsc: ENST00000372192.3:c.2802C>T
  hgvsp: ENST00000372192.3:c.2802C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9586
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000389703
  ensembl transcript: ENST00000447098
  gene symbol: PTCH2
  hgvsc: ENST00000447098.2:c.2802C>T
  hgvsp: ENST00000447098.2:c.2802C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9586
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2620
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
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genotype depth: GenotypeDepth
  all individuals: 12
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5008
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
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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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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21562
  bin: 2.25e1
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genotype depth: GenotypeDepth
  all individuals: 6396
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1798
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2298
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 1484
  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 635
  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 873
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Cys934Cys
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5942
  num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

1-45292344-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45292344
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45292344
    reference: chr 1
allele count: 1
allele frequency: 8.865562608603142e-6
allele num: 112796
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000389703
  ensembl transcript: ENST00000447098
  gene symbol: PTCH2
  hgvsc: ENST00000447098.2:c.2792G>A
  hgvsp: ENSP00000389703.2:p.Arg931Gln
  variant of: http://identifiers.org/hgnc/9586
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000361266
  ensembl transcript: ENST00000372192
  gene symbol: PTCH2
  hgvsc: ENST00000372192.3:c.2792G>A
  hgvsp: ENSP00000361266.3:p.Arg931Gln
  variant of: http://identifiers.org/hgnc/9586
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5576
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14393
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
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genotype depth: GenotypeDepth
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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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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1012
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 347
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg931Gln
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5946
  num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP

1-45292345-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45292345
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45292345
    reference: chr 1
allele count: 1
allele frequency: 8.858023597774865e-6
allele num: 112892
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000389703
  ensembl transcript: ENST00000447098
  gene symbol: PTCH2
  hgvsc: ENST00000447098.2:c.2791C>T
  hgvsp: ENSP00000389703.2:p.Arg931Trp
  variant of: http://identifiers.org/hgnc/9586
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000361266
  ensembl transcript: ENST00000372192
  gene symbol: PTCH2
  hgvsc: ENST00000372192.3:c.2791C>T
  hgvsp: ENSP00000361266.3:p.Arg931Trp
  variant of: http://identifiers.org/hgnc/9586
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5703
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
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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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
  all individuals: 1613
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1024
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2104
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2641
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5753
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2373
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1674
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6590
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2020
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2230
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25589
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1496
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1101
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1442
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg931Trp
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 15018
  num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: QD

1-45292354-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45292354
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45292354
    reference: chr 1
allele count: 79
allele frequency: 7.043132500044577e-4
allele num: 112166
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000389703
  ensembl transcript: ENST00000447098
  gene symbol: PTCH2
  hgvsc: ENST00000447098.2:c.2782G>A
  hgvsp: ENSP00000389703.2:p.Glu928Lys
  variant of: http://identifiers.org/hgnc/9586
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117425
  ensembl protein: ENSP00000361266
  ensembl transcript: ENST00000372192
  gene symbol: PTCH2
  hgvsc: ENST00000372192.3:c.2782G>A
  hgvsp: ENSP00000361266.3:p.Glu928Lys
  variant of: http://identifiers.org/hgnc/9586
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5378
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6157
  bin: 3.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14184
  bin: 2.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21467
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3289
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5677
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 3.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 2504
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5784
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2216
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 657
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1587
  bin: 9.75e1
  variant carriers: 79
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1047
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 723
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1516
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1993
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1085
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25173
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6690
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1549
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1525
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2098
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2760
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu928Lys
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 6.804572672836147e-5
  allele num: 14696
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16462
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.0218783996132e-5
allele num: 66184
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.62e0

FS
type: SiteQuality
SIO_000300: 5.33e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.1e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

DP
type: SiteQuality
SIO_000300: 1.550689e6

QD
type: SiteQuality
SIO_000300: 1.203e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.419999999999999e-1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11452
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6492
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510802235987309e-5
allele num: 66190
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.01e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.0e-2

FS
type: SiteQuality
SIO_000300: 4.398e0

QD
type: SiteQuality
SIO_000300: 9.93e0

MQ
type: SiteQuality
SIO_000300: 5.911e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.17e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.166e0

DP
type: SiteQuality
SIO_000300: 1.552518e6

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.069434328720563e-5
allele num: 16476
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10230
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66290
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 5.686e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.62e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.84e0

MQRankSum
type: SiteQuality
SIO_000300: 6.19e-1

QD
type: SiteQuality
SIO_000300: 1.189e1

MQ
type: SiteQuality
SIO_000300: 5.95e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.59e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.32e-1

DP
type: SiteQuality
SIO_000300: 1.55557e6

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10276
num of homozygotes: 0

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: 11502
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506387081224391e-5
allele num: 66384
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -8.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 1.19e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.436e0

VQSLOD
type: SiteQuality
SIO_000300: 4.01e-1

DP
type: SiteQuality
SIO_000300: 1.56013e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.57e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.89e-1

QD
type: SiteQuality
SIO_000300: 1.065e1

European (Non-Finnish)
type: Population
allele count: 15
allele frequency: 2.257676098735701e-4
allele num: 66440
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.254e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.562851e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.499e0

MQRankSum
type: SiteQuality
SIO_000300: 7.3e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.12e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.18e0

MQ
type: SiteQuality
SIO_000300: 5.947e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

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

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.701202949165696e-5
allele num: 10308
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66444
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.56284e6

VQSLOD
type: SiteQuality
SIO_000300: 2.6e-2

QD
type: SiteQuality
SIO_000300: 1.047e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.308e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

MQRankSum
type: SiteQuality
SIO_000300: 1.79e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 2.399e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.032e0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66470
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.686e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.29e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.563517e6

QD
type: SiteQuality
SIO_000300: 1.586e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.11e-1

FS
type: SiteQuality
SIO_000300: 1.4752e1

MQRankSum
type: SiteQuality
SIO_000300: 1.43e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.744e0

MQ
type: SiteQuality
SIO_000300: 5.988e1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66492
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -6.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.57e0

VQSLOD
type: SiteQuality
SIO_000300: 3.64e-1

DP
type: SiteQuality
SIO_000300: 1.564423e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.54e-1

QD
type: SiteQuality
SIO_000300: 1.328e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.106e0

FS
type: SiteQuality
SIO_000300: 2.196e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.955e1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 33
allele frequency: 4.96046658449328e-4
allele num: 66526
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.91e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.204e0

FS
type: SiteQuality
SIO_000300: 1.251e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 1.568055e6

MQ
type: SiteQuality
SIO_000300: 5.946e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.5e-2

QD
type: SiteQuality
SIO_000300: 1.277e1

Latino
type: Population
allele count: 2
allele frequency: 1.731002250302925e-4
allele num: 11554
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66530
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.951e1

DP
type: SiteQuality
SIO_000300: 1.567516e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.27e0

FS
type: SiteQuality
SIO_000300: 5.759e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.419999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.85e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.590000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.08e0

QD
type: SiteQuality
SIO_000300: 1.41e1

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

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

South Asian
type: Population
allele count: 3
allele frequency: 1.817080557238038e-4
allele num: 16510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
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African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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QD
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MQ
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.755e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.409e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.01e-1

VQSLOD
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DP
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SIO_000300: 1.568004e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.45e-1

African
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allele frequency: 0.0e0
allele num: 10358
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Latino
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allele frequency: 0.0e0
allele num: 11560
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South Asian
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allele frequency: 0.0e0
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East Asian
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allele count: 1
allele frequency: 1.157407407407407e-4
allele num: 8640
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66570
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European (Finnish)
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allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
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VQSLOD
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BaseQRankSum
type: SiteQuality
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FS
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ClippingRankSum
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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MQ
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
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Latino
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allele frequency: 0.0e0
allele num: 11560
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African
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allele frequency: 9.654373431164318e-5
allele num: 10358
num of homozygotes: 0

East Asian
type: Population
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allele frequency: 0.0e0
allele num: 8640
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66570
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South Asian
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VQSLOD
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.24e-2

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.09e0

African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66600
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South Asian
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allele num: 16510
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East Asian
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allele frequency: 1.157407407407407e-4
allele num: 8640
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Latino
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allele count: 0
allele frequency: 0.0e0
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Other
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QD
type: SiteQuality
SIO_000300: 6.74e0

DP
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SIO_000300: 1.569375e6

FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.737e0

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.74e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.72e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6612
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African
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allele num: 10360
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East Asian
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allele count: 1
allele frequency: 1.157407407407407e-4
allele num: 8640
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South Asian
type: Population
allele count: 0
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Other
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BaseQRankSum
type: SiteQuality
SIO_000300: -7.99e-1

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66598
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Latino
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Other
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South Asian
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allele count: 2
allele frequency: 1.211387038158692e-4
allele num: 16510
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African
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allele count: 0
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East Asian
type: Population
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

QD
type: SiteQuality
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FS
type: SiteQuality
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DP
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -6.32e-1

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.081e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.92e1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
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allele count: 0
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allele num: 11568
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South Asian
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allele count: 0
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East Asian
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African
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allele num: 10364
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European (Non-Finnish)
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allele count: 0
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QD
type: SiteQuality
SIO_000300: 1.171e1

MQ
type: SiteQuality
SIO_000300: 5.987e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.009e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.23e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.3e-1

DP
type: SiteQuality
SIO_000300: 1.569547e6

VQSLOD
type: SiteQuality
SIO_000300: 1.11e0

MQRankSum
type: SiteQuality
SIO_000300: -7.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
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South Asian
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European (Finnish)
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allele count: 0
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allele num: 6612
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African
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allele count: 1
allele frequency: 9.646922631680494e-5
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Other
type: Population
allele count: 0
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European (Non-Finnish)
type: Population
allele count: 0
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MQ
type: SiteQuality
SIO_000300: 5.709e1

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.569531e6

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

QD
type: SiteQuality
SIO_000300: 1.223e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.830000000000001e-1

Latino
type: Population
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South Asian
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European (Finnish)
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European (Non-Finnish)
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Other
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African
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DP
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -2.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 8.84e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.74e0

FS
type: SiteQuality
SIO_000300: 1.447e0

QD
type: SiteQuality
SIO_000300: 1.34e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

South Asian
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allele count: 5
allele frequency: 3.028834504482675e-4
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Other
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African
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Latino
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allele frequency: 2.594258042199931e-4
allele num: 11564
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.50154659299078e-5
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European (Finnish)
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allele count: 0
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QD
type: SiteQuality
SIO_000300: 1.27e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.22e-1

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

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 3.46e-1

East Asian
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allele count: 2
allele frequency: 2.314814814814815e-4
allele num: 8640
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 906
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66590
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6608
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South Asian
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allele count: 0
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.135e0

QD
type: SiteQuality
SIO_000300: 1.188e1

MQ
type: SiteQuality
SIO_000300: 5.97e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.92e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.820000000000001e-1

FS
type: SiteQuality
SIO_000300: 1.247e0

DP
type: SiteQuality
SIO_000300: 1.569271e6

VQSLOD
type: SiteQuality
SIO_000300: 3.13e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.49e-1

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
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Latino
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allele count: 0
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allele num: 11562
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African
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allele count: 0
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East Asian
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allele count: 0
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allele num: 8640
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 906
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.502403846153846e-5
allele num: 66560
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.95e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.32e-1

QD
type: SiteQuality
SIO_000300: 1.046e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.62e-1

DP
type: SiteQuality
SIO_000300: 1.568458e6

MQ
type: SiteQuality
SIO_000300: 5.955e1

FS
type: SiteQuality
SIO_000300: 1.11e0

VQSLOD
type: SiteQuality
SIO_000300: 4.35e-1

Latino
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allele count: 0
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8640
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European (Finnish)
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allele count: 0
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South Asian
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allele count: 2
allele frequency: 1.212856276531231e-4
allele num: 16490
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African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
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allele num: 66512
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.9e-1

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 3.74e-1

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

VQSLOD
type: SiteQuality
SIO_000300: 3.88e-1

DP
type: SiteQuality
SIO_000300: 1.566689e6

Other
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allele count: 0
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num of homozygotes: 0

African
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allele count: 0
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allele num: 10358
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European (Finnish)
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allele count: 1
allele frequency: 1.516070345664039e-4
allele num: 6596
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East Asian
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allele count: 0
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Latino
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allele count: 0
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European (Non-Finnish)
type: Population
allele count: 0
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allele num: 66512
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.935e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.31e-1

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

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.566823e6

QD
type: SiteQuality
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Other
type: Population
allele count: 0
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East Asian
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allele count: 1
allele frequency: 1.157407407407407e-4
allele num: 8640
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Latino
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
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ClippingRankSum
type: SiteQuality
SIO_000300: -8.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.462e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.9e-1

DP
type: SiteQuality
SIO_000300: 1.56606e6

QD
type: SiteQuality
SIO_000300: 1.073e1

VQSLOD
type: SiteQuality
SIO_000300: 2.75e-1

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.988e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

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

Other
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Latino
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allele count: 0
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South Asian
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allele count: 0
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European (Non-Finnish)
type: Population
allele count: 0
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allele num: 66474
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East Asian
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allele count: 1
allele frequency: 1.157675387821255e-4
allele num: 8638
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BaseQRankSum
type: SiteQuality
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FS
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SIO_000300: 4.763e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 6.55e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.3e-2

DP
type: SiteQuality
SIO_000300: 1.564342e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.96e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.26e0

MQ
type: SiteQuality
SIO_000300: 5.955e1

QD
type: SiteQuality
SIO_000300: 1.259e1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11516
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508341126429153e-5
allele num: 66298
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16456
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.553112e6

MQRankSum
type: SiteQuality
SIO_000300: -2.51e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.84e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.68e0

MQ
type: SiteQuality
SIO_000300: 5.957e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.96e-1

QD
type: SiteQuality
SIO_000300: 1.498e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.8e-2

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10240
num of homozygotes: 0

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

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6528
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.63e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.24e0

MQ
type: SiteQuality
SIO_000300: 5.946e1

MQRankSum
type: SiteQuality
SIO_000300: -1.51e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.544472e6

FS
type: SiteQuality
SIO_000300: 4.8e-1

QD
type: SiteQuality
SIO_000300: 1.341e1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10132
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6422
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65616
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.1020258725897e-5
allele num: 16388
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MQRankSum
type: SiteQuality
SIO_000300: 9.340000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

DP
type: SiteQuality
SIO_000300: 1.553223e6

MQ
type: SiteQuality
SIO_000300: 5.956e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.08e-1

FS
type: SiteQuality
SIO_000300: 4.6302e1

VQSLOD
type: SiteQuality
SIO_000300: -3.937e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.899e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.69e-1

QD
type: SiteQuality
SIO_000300: 2.29e0

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

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6466
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10216
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16442
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ReadPosRankSum
type: SiteQuality
SIO_000300: -5.47e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.24e-1

DP
type: SiteQuality
SIO_000300: 1.537772e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.571e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.694e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.75e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.47e-1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16442
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.79431929480901e-5
allele num: 10210
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6464
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 8.75e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.36e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.58e-1

QD
type: SiteQuality
SIO_000300: 1.234e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.03e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

VQSLOD
type: SiteQuality
SIO_000300: 1.32e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

DP
type: SiteQuality
SIO_000300: 1.537739e6

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16434
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.800078400627205e-5
allele num: 10204
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6454
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.94e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.422e0

VQSLOD
type: SiteQuality
SIO_000300: 1.69e0

QD
type: SiteQuality
SIO_000300: 1.288e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.42e0

DP
type: SiteQuality
SIO_000300: 1.537009e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.55e-1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.517450682852807e-5
allele num: 65900
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6422
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16448
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11466
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10198
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QD
type: SiteQuality
SIO_000300: 1.274e1

DP
type: SiteQuality
SIO_000300: 1.535755e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.275e0

MQRankSum
type: SiteQuality
SIO_000300: -1.42e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.63e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.25e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

VQSLOD
type: SiteQuality
SIO_000300: 8.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

Latino
type: Population
allele count: 3
allele frequency: 2.614606937423741e-4
allele num: 11474
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16446
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65860
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6418
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
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BaseQRankSum
type: SiteQuality
SIO_000300: 8.48e-1

DP
type: SiteQuality
SIO_000300: 1.536148e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.44e-1

QD
type: SiteQuality
SIO_000300: 1.352e1

FS
type: SiteQuality
SIO_000300: 6.98e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.07e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.46e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.71e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

Latino
type: Population
allele count: 1
allele frequency: 8.718395815170009e-5
allele num: 11470
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.518556763651825e-5
allele num: 65852
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.243e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.26e-1

FS
type: SiteQuality
SIO_000300: 3.772e0

VQSLOD
type: SiteQuality
SIO_000300: 7.9e-2

MQRankSum
type: SiteQuality
SIO_000300: 5.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 1.686e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.27e-1

DP
type: SiteQuality
SIO_000300: 1.536443e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

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: 10194
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.21580547112462e-4
allele num: 16450
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.037574800279457e-5
allele num: 65842
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6408
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.81e0

MQ
type: SiteQuality
SIO_000300: 5.945e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.309e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.35e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.76e-1

FS
type: SiteQuality
SIO_000300: 3.882e0

MQRankSum
type: SiteQuality
SIO_000300: -6.08e-1

DP
type: SiteQuality
SIO_000300: 1.535884e6

QD
type: SiteQuality
SIO_000300: 1.508e1

European (Finnish)
type: Population
allele count: 298
allele frequency: 4.688483322844556e-2
allele num: 6356
num of homozygotes: 13

African
type: Population
allele count: 62
allele frequency: 6.086785784409974e-3
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East Asian
type: Population
allele count: 1366
allele frequency: 1.591703565602424e-1
allele num: 8582
num of homozygotes: 101

European (Non-Finnish)
type: Population
allele count: 1505
allele frequency: 2.288277330089707e-2
allele num: 65770
num of homozygotes: 18

Latino
type: Population
allele count: 1026
allele frequency: 8.974807557732681e-2
allele num: 11432
num of homozygotes: 62

South Asian
type: Population
allele count: 987
allele frequency: 6.002189248358063e-2
allele num: 16444
num of homozygotes: 30

BaseQRankSum
type: SiteQuality
SIO_000300: 1.8e-2

MQRankSum
type: SiteQuality
SIO_000300: 9.2e-2

MQ
type: SiteQuality
SIO_000300: 5.96e1

DP
type: SiteQuality
SIO_000300: 1.587832e6

VQSLOD
type: SiteQuality
SIO_000300: 6.72e0

QD
type: SiteQuality
SIO_000300: 1.478e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.39e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.37e-2

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6340
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65794
num of homozygotes: 0

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

Latino
type: Population
allele count: 3
allele frequency: 2.614151272220286e-4
allele num: 11476
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.62e0

MQRankSum
type: SiteQuality
SIO_000300: -1.62e-1

MQ
type: SiteQuality
SIO_000300: 5.944e1

FS
type: SiteQuality
SIO_000300: 5.003e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.16e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.22e-1

QD
type: SiteQuality
SIO_000300: 1.129e1

DP
type: SiteQuality
SIO_000300: 1.540973e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.51e-1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11466
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6332
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.078288353999514e-5
allele num: 16452
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65782
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.661e1

FS
type: SiteQuality
SIO_000300: 5.119e0

DP
type: SiteQuality
SIO_000300: 1.540976e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.82e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.188e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.52e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.48e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.89e0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6332
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.52114390021296e-5
allele num: 65740
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 2.93e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.100000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.561e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.94e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.632e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

QD
type: SiteQuality
SIO_000300: 1.153e1

DP
type: SiteQuality
SIO_000300: 1.54209e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.96e-1

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

South Asian
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allele count: 0
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num of homozygotes: 0

African
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allele count: 0
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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: 1
allele frequency: 1.52151421094273e-5
allele num: 65724
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -4.0e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -5.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.831e0

FS
type: SiteQuality
SIO_000300: 1.549e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.94e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.33e-1

DP
type: SiteQuality
SIO_000300: 1.543364e6

QD
type: SiteQuality
SIO_000300: 1.11e1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.043121024923161e-5
allele num: 65722
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10162
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.27e0

QD
type: SiteQuality
SIO_000300: 1.469e1

FS
type: SiteQuality
SIO_000300: 4.05e-1

DP
type: SiteQuality
SIO_000300: 1.543716e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.42e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.28e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.2e-2

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

East Asian
type: Population
allele count: 3
allele frequency: 3.481086098862845e-4
allele num: 8618
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65688
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 6.59e-1

QD
type: SiteQuality
SIO_000300: 1.503e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.8e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.268e0

DP
type: SiteQuality
SIO_000300: 1.545619e6

MQ
type: SiteQuality
SIO_000300: 5.866e1

FS
type: SiteQuality
SIO_000300: 2.665e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -4.27e-1

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

African
type: Population
allele count: 1
allele frequency: 9.854158454867954e-5
allele num: 10148
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6300
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.522765341860819e-5
allele num: 65670
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.61e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.82e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.56e-1

QD
type: SiteQuality
SIO_000300: 1.233e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

MQ
type: SiteQuality
SIO_000300: 5.936e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.431e0

FS
type: SiteQuality
SIO_000300: 5.511e0

DP
type: SiteQuality
SIO_000300: 1.546542e6

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10148
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6302
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.081245439065921e-5
allele num: 16444
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65660
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.09e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.34e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.547015e6

BaseQRankSum
type: SiteQuality
SIO_000300: -8.76e-1

MQ
type: SiteQuality
SIO_000300: 5.928e1

VQSLOD
type: SiteQuality
SIO_000300: 4.81e0

QD
type: SiteQuality
SIO_000300: 1.107e1

South Asian
type: Population
allele count: 1
allele frequency: 6.08198515995621e-5
allele num: 16442
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.315e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.32e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.58e0

FS
type: SiteQuality
SIO_000300: 1.38e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

DP
type: SiteQuality
SIO_000300: 1.547147e6

QD
type: SiteQuality
SIO_000300: 1.428e1

VQSLOD
type: SiteQuality
SIO_000300: -1.818e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65660
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10148
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.08198515995621e-5
allele num: 16442
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6292
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.04e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

FS
type: SiteQuality
SIO_000300: 1.302e0

VQSLOD
type: SiteQuality
SIO_000300: -2.056e0

MQ
type: SiteQuality
SIO_000300: 5.941e1

DP
type: SiteQuality
SIO_000300: 1.545355e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.028e0

MQRankSum
type: SiteQuality
SIO_000300: 1.33e0

QD
type: SiteQuality
SIO_000300: 2.081e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.09e-1

African
type: Population
allele count: 1
allele frequency: 9.869719699960521e-5
allele num: 10132
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65590
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6286
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 2.34e0

MQRankSum
type: SiteQuality
SIO_000300: -1.532e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.532e0

VQSLOD
type: SiteQuality
SIO_000300: -7.776999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.545408e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

MQ
type: SiteQuality
SIO_000300: 5.474e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.43e-1

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65538
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10116
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6276
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.094e0

QD
type: SiteQuality
SIO_000300: 1.072e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.95e-1

DP
type: SiteQuality
SIO_000300: 1.544341e6

MQRankSum
type: SiteQuality
SIO_000300: -4.3e-1

FS
type: SiteQuality
SIO_000300: 5.112e0

VQSLOD
type: SiteQuality
SIO_000300: 6.66e-1

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

African
type: Population
allele count: 1
allele frequency: 9.889240506329114e-5
allele num: 10112
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65544
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 1.497e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

QD
type: SiteQuality
SIO_000300: 8.220000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.53e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.21e-1

MQ
type: SiteQuality
SIO_000300: 5.6e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.26e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.293e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.093e0

DP
type: SiteQuality
SIO_000300: 1.543555e6

African
type: Population
allele count: 1
allele frequency: 9.920634920634921e-5
allele num: 10080
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6278
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.528444349341241e-4
allele num: 65426
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11472
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.84e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.79e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.74e0

FS
type: SiteQuality
SIO_000300: 5.19e-1

QD
type: SiteQuality
SIO_000300: 1.32e1

VQSLOD
type: SiteQuality
SIO_000300: 1.77e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

DP
type: SiteQuality
SIO_000300: 1.538285e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.91e-1

South Asian
type: Population
allele count: 1
allele frequency: 6.080505898090721e-5
allele num: 16446
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.223728087618931e-4
allele num: 65374
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.727526618956188e-5
allele num: 11458
num of homozygotes: 0

African
type: Population
allele count: 10
allele frequency: 9.916699722332407e-4
allele num: 10084
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6268
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.537878e6

MQRankSum
type: SiteQuality
SIO_000300: -1.71e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.5e-1

QD
type: SiteQuality
SIO_000300: 1.152e1

FS
type: SiteQuality
SIO_000300: 6.993e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.5e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.42e-1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65352
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.322340919647004e-4
allele num: 8612
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6272
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 3.969041476483429e-4
allele num: 10078
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.215953307392996e-4
allele num: 16448
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.94e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.58e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.056e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.22e0

MQRankSum
type: SiteQuality
SIO_000300: -3.83e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

FS
type: SiteQuality
SIO_000300: 1.1853e1

QD
type: SiteQuality
SIO_000300: 1.335e1

DP
type: SiteQuality
SIO_000300: 1.537364e6

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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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

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

African
type: Population
allele count: 1
allele frequency: 1.000400160064026e-4
allele num: 9996
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6246
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.530092e6

VQSLOD
type: SiteQuality
SIO_000300: 2.36e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.528e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 1.583e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.665e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.102e0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8600
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9862
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6236
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.726003490401397e-5
allele num: 11460
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64914
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.672e0

FS
type: SiteQuality
SIO_000300: 3.969e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.83e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.414e1

DP
type: SiteQuality
SIO_000300: 1.522558e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.4e-1

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9772
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16446
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.282178217821782e-5
allele num: 64640
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.52024e6

FS
type: SiteQuality
SIO_000300: 1.1998e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.820000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.29e0

VQSLOD
type: SiteQuality
SIO_000300: -1.589e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

QD
type: SiteQuality
SIO_000300: 1.26e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.78e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6208
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16450
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
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Latino
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allele frequency: 8.735150244584206e-5
allele num: 11448
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.205e0

MQRankSum
type: SiteQuality
SIO_000300: 1.19e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.64e-1

QD
type: SiteQuality
SIO_000300: 1.435e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.519494e6

VQSLOD
type: SiteQuality
SIO_000300: 1.15e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.43e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.98e-1

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 866
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9648
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64458
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.077549532028686e-5
allele num: 16454
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6190
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MQ
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.520249e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

FS
type: SiteQuality
SIO_000300: 7.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.14e0

MQRankSum
type: SiteQuality
SIO_000300: 1.08e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.27e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.104e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.92e-1

QD
type: SiteQuality
SIO_000300: 7.53e0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5800
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 9288
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63428
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South Asian
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allele frequency: 2.437241043139166e-4
allele num: 16412
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East Asian
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allele num: 8512
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.919e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.1e-3

DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 3.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.106e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.609e0

FS
type: SiteQuality
SIO_000300: 4.2436e1

QD
type: SiteQuality
SIO_000300: 1.146e1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8592
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.547939692269589e-5
allele num: 64602
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African
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allele count: 0
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16448
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6168
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

DP
type: SiteQuality
SIO_000300: 1.530366e6

MQRankSum
type: SiteQuality
SIO_000300: 8.080000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.39e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.229e-1

ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.953e1

FS
type: SiteQuality
SIO_000300: 8.462999999999999e0

QD
type: SiteQuality
SIO_000300: 1.27e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.2e-2

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11456
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64580
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6154
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East Asian
type: Population
allele count: 1
allele frequency: 1.164415463437354e-4
allele num: 8588
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South Asian
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allele count: 0
allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.205e0

DP
type: SiteQuality
SIO_000300: 1.528804e6

MQRankSum
type: SiteQuality
SIO_000300: 1.44e0

MQ
type: SiteQuality
SIO_000300: 5.861e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.763e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.42e0

FS
type: SiteQuality
SIO_000300: 6.118e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

QD
type: SiteQuality
SIO_000300: 1.201e1

VQSLOD
type: SiteQuality
SIO_000300: -1.721e0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16442
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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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African
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11460
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6160
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.008e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

QD
type: SiteQuality
SIO_000300: 1.15e1

FS
type: SiteQuality
SIO_000300: 1.5375e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.71e-1

DP
type: SiteQuality
SIO_000300: 1.52597e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 7.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.29e-1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.557777985481509e-5
allele num: 64194
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9618
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East Asian
type: Population
allele count: 1
allele frequency: 1.167133520074697e-4
allele num: 8568
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6094
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
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South Asian
type: Population
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allele num: 16380
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FS
type: SiteQuality
SIO_000300: 7.99e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.29e0

MQRankSum
type: SiteQuality
SIO_000300: 6.7e-1

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

MQ
type: SiteQuality
SIO_000300: 5.963e1

DP
type: SiteQuality
SIO_000300: 1.50995e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.83e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.889999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.206e1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9596
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6086
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64034
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11422
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South Asian
type: Population
allele count: 0
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FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.12e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.867e0

MQRankSum
type: SiteQuality
SIO_000300: -6.96e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.78e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.506404e6

QD
type: SiteQuality
SIO_000300: 4.12e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.78e-1

South Asian
type: Population
allele count: 1
allele frequency: 6.113964294448521e-5
allele num: 16356
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6088
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64038
num of homozygotes: 0

Latino
type: Population
allele count: 0
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Other
type: Population
allele count: 0
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East Asian
type: Population
allele count: 0
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allele num: 8564
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FS
type: SiteQuality
SIO_000300: 8.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.6e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.16e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.62e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.297e0

DP
type: SiteQuality
SIO_000300: 1.501067e6

QD
type: SiteQuality
SIO_000300: 1.31e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9500
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63768
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South Asian
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allele count: 0
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allele num: 16296
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6026
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Latino
type: Population
allele count: 0
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Other
type: Population
allele count: 0
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 8.21e-1

FS
type: SiteQuality
SIO_000300: 6.106e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.08e-1

DP
type: SiteQuality
SIO_000300: 1.489634e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.86e-1

MQ
type: SiteQuality
SIO_000300: 5.871e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

QD
type: SiteQuality
SIO_000300: 8.25e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.95e-1

Other
type: Population
allele count: 0
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East Asian
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allele count: 0
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Latino
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allele count: 1
allele frequency: 8.77963125548727e-5
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63636
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European (Finnish)
type: Population
allele count: 0
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South Asian
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allele count: 0
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QD
type: SiteQuality
SIO_000300: 1.406e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.46e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.09e-1

DP
type: SiteQuality
SIO_000300: 1.479801e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 9.46e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.35e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 9.76e-1

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11386
num of homozygotes: 0

East Asian
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European (Finnish)
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South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 3
allele frequency: 4.723368076329628e-5
allele num: 63514
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Other
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MQ
type: SiteQuality
SIO_000300: 5.932e1

ReadPosRankSum
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.472604e6

European (Non-Finnish)
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allele count: 2
allele frequency: 3.160256612836963e-5
allele num: 63286
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European (Finnish)
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Latino
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East Asian
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African
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Other
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MQRankSum
type: SiteQuality
SIO_000300: 5.22e-1

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.921e1

South Asian
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African
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European (Finnish)
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European (Non-Finnish)
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allele count: 4
allele frequency: 6.323110970597533e-5
allele num: 63260
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East Asian
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Other
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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DP
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MQRankSum
type: SiteQuality
SIO_000300: -5.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.54e-1

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e-1

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 3.93e0

African
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South Asian
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East Asian
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Other
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European (Finnish)
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allele count: 0
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European (Non-Finnish)
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
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MQ
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SIO_000300: 6.0e1

VQSLOD
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DP
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ReadPosRankSum
type: SiteQuality
SIO_000300: 9.79e-1

FS
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MQRankSum
type: SiteQuality
SIO_000300: 1.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

QD
type: SiteQuality
SIO_000300: 1.498e1

Latino
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allele count: 0
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num of homozygotes: 0

European (Non-Finnish)
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African
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Other
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European (Finnish)
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allele count: 0
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East Asian
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FS
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SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
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DP
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MQ
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SIO_000300: 5.879e1

ReadPosRankSum
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MQRankSum
type: SiteQuality
SIO_000300: 4.74e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.964e0

VQSLOD
type: SiteQuality
SIO_000300: -1.736e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

QD
type: SiteQuality
SIO_000300: 1.889e1

African
type: Population
allele count: 5
allele frequency: 5.439512619669277e-4
allele num: 9192
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8466
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.589420815054994e-5
allele num: 62916
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5942
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.0e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.48e-1

MQ
type: SiteQuality
SIO_000300: 5.946e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.3e-1

FS
type: SiteQuality
SIO_000300: 7.956e0

QD
type: SiteQuality
SIO_000300: 2.102e1

DP
type: SiteQuality
SIO_000300: 1.416654e6

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8462
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.087902523933855e-4
allele num: 9192
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62946
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11334
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15530
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e0

MQ
type: SiteQuality
SIO_000300: 5.914e1

VQSLOD
type: SiteQuality
SIO_000300: -4.359e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.15e-1

QD
type: SiteQuality
SIO_000300: 1.151e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.896e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.46e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

DP
type: SiteQuality
SIO_000300: 1.41698e6

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8410
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.603797793174237e-5
allele num: 62352
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11294
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8966
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15014
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.276e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.185e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.11e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.43e0

QD
type: SiteQuality
SIO_000300: 1.257e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.56e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.74e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.383539e6

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5948
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.602255976414792e-5
allele num: 62412
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8990
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11290
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8416
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -9.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.6e-1

FS
type: SiteQuality
SIO_000300: 4.096e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.05e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.6e-1

DP
type: SiteQuality
SIO_000300: 1.38367e6

VQSLOD
type: SiteQuality
SIO_000300: -8.110000000000001e-2

QD
type: SiteQuality
SIO_000300: 1.739e1

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.371544167228591e-4
allele num: 5932
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11274
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 72
allele frequency: 1.158823150711389e-3
allele num: 62132
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 4.491354143274197e-4
allele num: 8906
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8410
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 3.23e0

DP
type: SiteQuality
SIO_000300: 1.380775e6

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.47e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1