X-85236824-TAAA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24085236824
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24085236821
    reference: chr 0
allele count: 2
allele frequency: 1.705611461709023e-4
allele num: 11726
alternate allele: T
canonical: false
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16956
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1886
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11905
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1522
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2636
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6376
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2517
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 584
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1843
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 8.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7852
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 24556
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 265
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1076
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 792
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 999
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 1
  allele frequency: 7.352941176470588e-3
  allele num: 136
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.801477211313277e-4
  allele num: 5551
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 370
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1272
  num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: TAAA
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum

X-85236824-T-TAAA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24085236824
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24085236827
    reference: chr 0
allele count: 9
allele frequency: 7.675251577690602e-4
allele num: 11726
alternate allele: TAAA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000362228
  ensembl transcript: ENST00000358786
  gene symbol: CHM
  hgvsc: ENST00000358786.4:c.117-14_117-12dupTTT
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl transcript: ENST00000467744
  gene symbol: CHM
  hgvsc: ENST00000467744.2:n.126+45668_126+45670dupTTT
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000350386
  ensembl transcript: ENST00000357749
  gene symbol: CHM
  hgvsc: ENST00000357749.2:c.117-14_117-12dupTTT
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000441728
  ensembl transcript: ENST00000537751
  gene symbol: CHM
  hgvsc: ENST00000537751.1:c.-130-17770_-130-17768dupTTT
  variant of: http://identifiers.org/hgnc/1940
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6376
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1522
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16956
  bin: 7.5e0
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 2636
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11905
  bin: 2.5e0
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1886
  bin: 2.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 24556
  bin: 2.5e0
  variant carriers: 9
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
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  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 6.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 3.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2517
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 584
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 792
  bin: 3.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 5.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1843
  bin: 1.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD

X-85236839-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24085236839
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24085236839
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 23367
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000441728
  ensembl transcript: ENST00000537751
  gene symbol: CHM
  hgvsc: ENST00000537751.1:c.-130-17782T>A
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000350386
  ensembl transcript: ENST00000357749
  gene symbol: CHM
  hgvsc: ENST00000357749.2:c.117-26T>A
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000362228
  ensembl transcript: ENST00000358786
  gene symbol: CHM
  hgvsc: ENST00000358786.4:c.117-26T>A
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl transcript: ENST00000467744
  gene symbol: CHM
  hgvsc: ENST00000467744.2:n.126+45656T>A
  variant of: http://identifiers.org/hgnc/1940
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 12868
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  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: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
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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: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  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 quality: GenotypeQuality
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  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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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1006
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1177
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

X-85236841-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24085236841
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24085236841
    reference: chr 0
allele count: 1
allele frequency: 5.243563525772115e-5
allele num: 19071
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000350386
  ensembl transcript: ENST00000357749
  gene symbol: CHM
  hgvsc: ENST00000357749.2:c.117-28C>T
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000441728
  ensembl transcript: ENST00000537751
  gene symbol: CHM
  hgvsc: ENST00000537751.1:c.-130-17784C>T
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000362228
  ensembl transcript: ENST00000358786
  gene symbol: CHM
  hgvsc: ENST00000358786.4:c.117-28C>T
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl transcript: ENST00000467744
  gene symbol: CHM
  hgvsc: ENST00000467744.2:n.126+45654C>T
  variant of: http://identifiers.org/hgnc/1940
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  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
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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: 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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  bin: 3.75e1
  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
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  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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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

X-85236842-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24085236842
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24085236842
    reference: chr 0
allele count: 1
allele frequency: 5.274261603375528e-5
allele num: 18960
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000350386
  ensembl transcript: ENST00000357749
  gene symbol: CHM
  hgvsc: ENST00000357749.2:c.117-29A>T
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000441728
  ensembl transcript: ENST00000537751
  gene symbol: CHM
  hgvsc: ENST00000537751.1:c.-130-17785A>T
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000362228
  ensembl transcript: ENST00000358786
  gene symbol: CHM
  hgvsc: ENST00000358786.4:c.117-29A>T
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl transcript: ENST00000467744
  gene symbol: CHM
  hgvsc: ENST00000467744.2:n.126+45653A>T
  variant of: http://identifiers.org/hgnc/1940
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 26592
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4953
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 180
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 282
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum

X-85236842-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24085236842
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24085236842
    reference: chr 0
allele count: 6
allele frequency: 3.164556962025317e-4
allele num: 18960
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000362228
  ensembl transcript: ENST00000358786
  gene symbol: CHM
  hgvsc: ENST00000358786.4:c.117-29A>C
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl transcript: ENST00000467744
  gene symbol: CHM
  hgvsc: ENST00000467744.2:n.126+45653A>C
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000441728
  ensembl transcript: ENST00000537751
  gene symbol: CHM
  hgvsc: ENST00000537751.1:c.-130-17785A>C
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000350386
  ensembl transcript: ENST00000357749
  gene symbol: CHM
  hgvsc: ENST00000357749.2:c.117-29A>C
  variant of: http://identifiers.org/hgnc/1940
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4953
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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: 4.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1549
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2544
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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
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 741
  bin: 6.75e1
  variant carriers: 1
num of homozygotes: 1
population: East Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum

X-85236846-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24085236846
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24085236846
    reference: chr 0
allele count: 2
allele frequency: 1.019056353816366e-4
allele num: 19626
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl transcript: ENST00000467744
  gene symbol: CHM
  hgvsc: ENST00000467744.2:n.126+45649C>T
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000362228
  ensembl transcript: ENST00000358786
  gene symbol: CHM
  hgvsc: ENST00000358786.4:c.117-33C>T
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000441728
  ensembl transcript: ENST00000537751
  gene symbol: CHM
  hgvsc: ENST00000537751.1:c.-130-17789C>T
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000350386
  ensembl transcript: ENST00000357749
  gene symbol: CHM
  hgvsc: ENST00000357749.2:c.117-33C>T
  variant of: http://identifiers.org/hgnc/1940
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 2105
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1295
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  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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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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: 455
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  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

X-85236852-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24085236852
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24085236852
    reference: chr 0
allele count: 1
allele frequency: 5.348737697903295e-5
allele num: 18696
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl transcript: ENST00000467744
  gene symbol: CHM
  hgvsc: ENST00000467744.2:n.126+45643C>A
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000441728
  ensembl transcript: ENST00000537751
  gene symbol: CHM
  hgvsc: ENST00000537751.1:c.-130-17795C>A
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000350386
  ensembl transcript: ENST00000357749
  gene symbol: CHM
  hgvsc: ENST00000357749.2:c.117-39C>A
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000362228
  ensembl transcript: ENST00000358786
  gene symbol: CHM
  hgvsc: ENST00000358786.4:c.117-39C>A
  variant of: http://identifiers.org/hgnc/1940
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1491
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2105
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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: 129
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum

X-85236853-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24085236853
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24085236853
    reference: chr 0
allele count: 104
allele frequency: 5.621925509486999e-3
allele num: 18499
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl transcript: ENST00000467744
  gene symbol: CHM
  hgvsc: ENST00000467744.2:n.126+45642C>G
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000350386
  ensembl transcript: ENST00000357749
  gene symbol: CHM
  hgvsc: ENST00000357749.2:c.117-40C>G
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000441728
  ensembl transcript: ENST00000537751
  gene symbol: CHM
  hgvsc: ENST00000537751.1:c.-130-17796C>G
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000362228
  ensembl transcript: ENST00000358786
  gene symbol: CHM
  hgvsc: ENST00000358786.4:c.117-40C>G
  variant of: http://identifiers.org/hgnc/1940
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 2.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 1.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10984
  bin: 7.5e0
  variant carriers: 83
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3141
  bin: 1.25e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 28726
  bin: 2.5e0
  variant carriers: 74
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2020
  bin: 2.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 8.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 3702
  bin: 1.25e1
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 5331
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 9.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2535
  bin: 6.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 3.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 8.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 806
  bin: 2.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 4.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1746
  bin: 9.75e1
  variant carriers: 109
genotype quality: GenotypeQuality
  all individuals: 24921
  bin: 7.5e0
  variant carriers: 40
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 7.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 5973
  bin: 2.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 880
  bin: 6.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1981
  bin: 1.75e1
  variant carriers: 11
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff

X-85236863-CAATT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24085236863
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24085236859
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 17024
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000441728
  ensembl transcript: ENST00000537751
  gene symbol: CHM
  hgvsc: ENST00000537751.1:c.-130-17810_-130-17807delAATT
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000350386
  ensembl transcript: ENST00000357749
  gene symbol: CHM
  hgvsc: ENST00000357749.2:c.117-54_117-51delAATT
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl transcript: ENST00000467744
  gene symbol: CHM
  hgvsc: ENST00000467744.2:n.126+45628_126+45631delAATT
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000362228
  ensembl transcript: ENST00000358786
  gene symbol: CHM
  hgvsc: ENST00000358786.4:c.117-54_117-51delAATT
  variant of: http://identifiers.org/hgnc/1940
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28802
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11228
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1639
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2400
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1850
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21723
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 745
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8198
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 742
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3723
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3738
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1474
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1654
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4219
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: CAATT
site quality: QD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

X-85236865-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24085236865
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24085236865
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 17059
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl transcript: ENST00000467744
  gene symbol: CHM
  hgvsc: ENST00000467744.2:n.126+45630T>C
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000362228
  ensembl transcript: ENST00000358786
  gene symbol: CHM
  hgvsc: ENST00000358786.4:c.117-52T>C
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000350386
  ensembl transcript: ENST00000357749
  gene symbol: CHM
  hgvsc: ENST00000357749.2:c.117-52T>C
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000441728
  ensembl transcript: ENST00000537751
  gene symbol: CHM
  hgvsc: ENST00000537751.1:c.-130-17808T>C
  variant of: http://identifiers.org/hgnc/1940
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 11201
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28867
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2412
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1872
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1654
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3457
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1351
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 877
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4037
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8583
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 749
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4238
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 21242
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ

X-85282444-CCTGTAT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24085282444
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24085282438
    reference: chr 0
allele count: 1
allele frequency: 1.319365648995963e-5
allele num: 75794
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000441728
  ensembl transcript: ENST00000537751
  gene symbol: CHM
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl transcript: ENST00000467744
  gene symbol: CHM
  hgvsc: ENST00000467744.2:n.126+45_126+50delATACAG
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000350386
  ensembl transcript: ENST00000357749
  gene symbol: CHM
  hgvsc: ENST00000357749.2:c.116+45_116+50delATACAG
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188419
  ensembl transcript: ENST00000483950
  gene symbol: CHM
  hgvsc: ENST00000483950.1:n.190_195delATACAG
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000362228
  ensembl transcript: ENST00000358786
  gene symbol: CHM
  hgvsc: ENST00000358786.4:c.116+45_116+50delATACAG
  variant of: http://identifiers.org/hgnc/1940
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6675
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12566
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2753
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4789
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10058
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7233
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8698
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5746
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2353
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1300
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1945
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 698
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1530
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1130
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2670
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4987
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1402
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3942
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1020
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1107
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3157
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: CCTGTAT
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

X-85282445-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24085282445
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24085282445
    reference: chr 0
allele count: 1
allele frequency: 1.319800974013119e-5
allele num: 75769
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000441728
  ensembl transcript: ENST00000537751
  gene symbol: CHM
  hgvsc: ENST00000537751.1:c.-131+20043G>A
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000350386
  ensembl transcript: ENST00000357749
  gene symbol: CHM
  hgvsc: ENST00000357749.2:c.116+50G>A
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188419
  ensembl transcript: ENST00000483950
  gene symbol: CHM
  hgvsc: ENST00000483950.1:n.195G>A
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl transcript: ENST00000467744
  gene symbol: CHM
  hgvsc: ENST00000467744.2:n.126+50G>A
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000362228
  ensembl transcript: ENST00000358786
  gene symbol: CHM
  hgvsc: ENST00000358786.4:c.116+50G>A
  variant of: http://identifiers.org/hgnc/1940
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1626
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2756
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1164
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6000
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3671
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10035
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 775
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2410
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3952
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1009
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1104
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1916
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5430
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5926
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD

X-85282446-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24085282446
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24085282446
    reference: chr 0
allele count: 3
allele frequency: 3.950955472731822e-5
allele num: 75931
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000350386
  ensembl transcript: ENST00000357749
  gene symbol: CHM
  hgvsc: ENST00000357749.2:c.116+49A>G
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl transcript: ENST00000467744
  gene symbol: CHM
  hgvsc: ENST00000467744.2:n.126+49A>G
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188419
  ensembl transcript: ENST00000483950
  gene symbol: CHM
  hgvsc: ENST00000483950.1:n.194A>G
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000362228
  ensembl transcript: ENST00000358786
  gene symbol: CHM
  hgvsc: ENST00000358786.4:c.116+49A>G
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000441728
  ensembl transcript: ENST00000537751
  gene symbol: CHM
  hgvsc: ENST00000537751.1:c.-131+20042A>G
  variant of: http://identifiers.org/hgnc/1940
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6726
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9386
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1620
  bin: 2.5e0
  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
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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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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5926
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1162
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3703
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5435
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1920
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1406
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: European (Finnish)
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP

X-85282447-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24085282447
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24085282447
    reference: chr 0
allele count: 1
allele frequency: 1.319957761351637e-5
allele num: 75760
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000362228
  ensembl transcript: ENST00000358786
  gene symbol: CHM
  hgvsc: ENST00000358786.4:c.116+48C>T
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000350386
  ensembl transcript: ENST00000357749
  gene symbol: CHM
  hgvsc: ENST00000357749.2:c.116+48C>T
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000441728
  ensembl transcript: ENST00000537751
  gene symbol: CHM
  hgvsc: ENST00000537751.1:c.-131+20041C>T
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188419
  ensembl transcript: ENST00000483950
  gene symbol: CHM
  hgvsc: ENST00000483950.1:n.193C>T
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl transcript: ENST00000467744
  gene symbol: CHM
  hgvsc: ENST00000467744.2:n.126+48C>T
  variant of: http://identifiers.org/hgnc/1940
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2755
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8210
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8676
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6773
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1607
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12560
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 9.75e1
  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: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3820
  bin: 4.75e1
  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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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2264
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5411
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1000
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4950
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11393
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
reference allele: G
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

X-85282450-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24085282450
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24085282450
    reference: chr 0
allele count: 4
allele frequency: 5.258383835728089e-5
allele num: 76069
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl transcript: ENST00000467744
  gene symbol: CHM
  hgvsc: ENST00000467744.2:n.126+45A>G
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000362228
  ensembl transcript: ENST00000358786
  gene symbol: CHM
  hgvsc: ENST00000358786.4:c.116+45A>G
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000441728
  ensembl transcript: ENST00000537751
  gene symbol: CHM
  hgvsc: ENST00000537751.1:c.-131+20038A>G
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188419
  ensembl transcript: ENST00000483950
  gene symbol: CHM
  hgvsc: ENST00000483950.1:n.190A>G
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000350386
  ensembl transcript: ENST00000357749
  gene symbol: CHM
  hgvsc: ENST00000357749.2:c.116+45A>G
  variant of: http://identifiers.org/hgnc/1940
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6908
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2767
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4863
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12516
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9762
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8672
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5925
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 7034
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  variant carriers: 1
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 661
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12869
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1410
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

X-85282452-G-GA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24085282452
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24085282453
    reference: chr 0
allele count: 1
allele frequency: 1.314474998685525e-5
allele num: 76076
alternate allele: GA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000362228
  ensembl transcript: ENST00000358786
  gene symbol: CHM
  hgvsc: ENST00000358786.4:c.116+42dupT
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000441728
  ensembl transcript: ENST00000537751
  gene symbol: CHM
  hgvsc: ENST00000537751.1:c.-131+20035dupT
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188419
  ensembl transcript: ENST00000483950
  gene symbol: CHM
  hgvsc: ENST00000483950.1:n.187dupT
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl transcript: ENST00000467744
  gene symbol: CHM
  hgvsc: ENST00000467744.2:n.126+42dupT
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000350386
  ensembl transcript: ENST00000357749
  gene symbol: CHM
  hgvsc: ENST00000357749.2:c.116+42dupT
  variant of: http://identifiers.org/hgnc/1940
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7087
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6168
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11056
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2763
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1611
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4928
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12332
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1492
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1147
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1366
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4752
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2613
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1983
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1099
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3051
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 885
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5343
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD

X-85282456-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24085282456
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24085282456
    reference: chr 0
allele count: 1
allele frequency: 1.308181366264619e-5
allele num: 76442
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000441728
  ensembl transcript: ENST00000537751
  gene symbol: CHM
  hgvsc: ENST00000537751.1:c.-131+20032A>G
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl transcript: ENST00000467744
  gene symbol: CHM
  hgvsc: ENST00000467744.2:n.126+39A>G
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188419
  ensembl transcript: ENST00000483950
  gene symbol: CHM
  hgvsc: ENST00000483950.1:n.184A>G
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000362228
  ensembl transcript: ENST00000358786
  gene symbol: CHM
  hgvsc: ENST00000358786.4:c.116+39A>G
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000350386
  ensembl transcript: ENST00000357749
  gene symbol: CHM
  hgvsc: ENST00000357749.2:c.116+39A>G
  variant of: http://identifiers.org/hgnc/1940
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11521
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7368
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 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
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1611
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2767
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
  all individuals: 1500
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genotype quality: GenotypeQuality
  all individuals: 569
  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1003
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 5.25e1
  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: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 1500
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 5117
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2971
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD

X-85282469-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24085282469
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24085282469
    reference: chr 0
allele count: 1
allele frequency: 1.281016614785494e-5
allele num: 78063
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188419
  ensembl transcript: ENST00000483950
  gene symbol: CHM
  hgvsc: ENST00000483950.1:n.171A>G
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000350386
  ensembl transcript: ENST00000357749
  gene symbol: CHM
  hgvsc: ENST00000357749.2:c.116+26A>G
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000362228
  ensembl transcript: ENST00000358786
  gene symbol: CHM
  hgvsc: ENST00000358786.4:c.116+26A>G
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl transcript: ENST00000467744
  gene symbol: CHM
  hgvsc: ENST00000467744.2:n.126+26A>G
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000441728
  ensembl transcript: ENST00000537751
  gene symbol: CHM
  hgvsc: ENST00000537751.1:c.-131+20019A>G
  variant of: http://identifiers.org/hgnc/1940
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6651
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5236
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2780
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1619
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8357
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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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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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 26447
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

X-85282474-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24085282474
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24085282474
    reference: chr 0
allele count: 1
allele frequency: 1.259588618357245e-5
allele num: 79391
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000441728
  ensembl transcript: ENST00000537751
  gene symbol: CHM
  hgvsc: ENST00000537751.1:c.-131+20014A>C
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl transcript: ENST00000467744
  gene symbol: CHM
  hgvsc: ENST00000467744.2:n.126+21A>C
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000362228
  ensembl transcript: ENST00000358786
  gene symbol: CHM
  hgvsc: ENST00000358786.4:c.116+21A>C
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188419
  ensembl transcript: ENST00000483950
  gene symbol: CHM
  hgvsc: ENST00000483950.1:n.166A>C
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000350386
  ensembl transcript: ENST00000357749
  gene symbol: CHM
  hgvsc: ENST00000357749.2:c.116+21A>C
  variant of: http://identifiers.org/hgnc/1940
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2790
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4648
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  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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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  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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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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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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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 1
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD

X-85282480-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24085282480
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24085282480
    reference: chr 0
allele count: 9
allele frequency: 1.110357164888039e-4
allele num: 81055
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188419
  ensembl transcript: ENST00000483950
  gene symbol: CHM
  hgvsc: ENST00000483950.1:n.160G>A
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl transcript: ENST00000467744
  gene symbol: CHM
  hgvsc: ENST00000467744.2:n.126+15G>A
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000362228
  ensembl transcript: ENST00000358786
  gene symbol: CHM
  hgvsc: ENST00000358786.4:c.116+15G>A
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000441728
  ensembl transcript: ENST00000537751
  gene symbol: CHM
  hgvsc: ENST00000537751.1:c.-131+20008G>A
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000350386
  ensembl transcript: ENST00000357749
  gene symbol: CHM
  hgvsc: ENST00000357749.2:c.116+15G>A
  variant of: http://identifiers.org/hgnc/1940
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27168
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5868
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5495
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2801
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2947
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9375
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5987
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1334
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33003
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5936
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 1454
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1930
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1084
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: QD

X-85282480-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24085282480
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24085282480
    reference: chr 0
allele count: 1
allele frequency: 1.233730183208932e-5
allele num: 81055
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl transcript: ENST00000467744
  gene symbol: CHM
  hgvsc: ENST00000467744.2:n.126+15G>T
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000350386
  ensembl transcript: ENST00000357749
  gene symbol: CHM
  hgvsc: ENST00000357749.2:c.116+15G>T
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188419
  ensembl transcript: ENST00000483950
  gene symbol: CHM
  hgvsc: ENST00000483950.1:n.160G>T
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000362228
  ensembl transcript: ENST00000358786
  gene symbol: CHM
  hgvsc: ENST00000358786.4:c.116+15G>T
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000441728
  ensembl transcript: ENST00000537751
  gene symbol: CHM
  hgvsc: ENST00000537751.1:c.-131+20008G>T
  variant of: http://identifiers.org/hgnc/1940
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2801
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27168
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5868
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2947
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9375
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5495
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5936
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1523
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1334
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1454
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5987
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4548
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1084
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

X-85282481-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24085282481
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24085282481
    reference: chr 0
allele count: 1
allele frequency: 1.226241569589209e-5
allele num: 81550
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000350386
  ensembl transcript: ENST00000357749
  gene symbol: CHM
  hgvsc: ENST00000357749.2:c.116+14C>T
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000441728
  ensembl transcript: ENST00000537751
  gene symbol: CHM
  hgvsc: ENST00000537751.1:c.-131+20007C>T
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl transcript: ENST00000467744
  gene symbol: CHM
  hgvsc: ENST00000467744.2:n.126+14C>T
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188419
  ensembl transcript: ENST00000483950
  gene symbol: CHM
  hgvsc: ENST00000483950.1:n.159C>T
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000362228
  ensembl transcript: ENST00000358786
  gene symbol: CHM
  hgvsc: ENST00000358786.4:c.116+14C>T
  variant of: http://identifiers.org/hgnc/1940
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5479
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27722
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9551
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2620
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2807
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5550
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1169
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1940
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5628
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1526
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1101
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD

X-85282482-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24085282482
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24085282482
    reference: chr 0
allele count: 2
allele frequency: 2.443136009381642e-5
allele num: 81862
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000362228
  ensembl transcript: ENST00000358786
  gene symbol: CHM
  hgvsc: ENST00000358786.4:c.116+13A>G
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000350386
  ensembl transcript: ENST00000357749
  gene symbol: CHM
  hgvsc: ENST00000357749.2:c.116+13A>G
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl transcript: ENST00000467744
  gene symbol: CHM
  hgvsc: ENST00000467744.2:n.126+13A>G
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188419
  ensembl transcript: ENST00000483950
  gene symbol: CHM
  hgvsc: ENST00000483950.1:n.158A>G
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000441728
  ensembl transcript: ENST00000537751
  gene symbol: CHM
  hgvsc: ENST00000537751.1:c.-131+20006A>G
  variant of: http://identifiers.org/hgnc/1940
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9615
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5277
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5544
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1616
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2798
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2416
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 358
  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
  all individuals: 430
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1950
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34448
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 876
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1065
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1101
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1470
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: Latino
reference allele: T
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

X-85282495-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24085282495
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24085282495
    reference: chr 0
allele count: 4
allele frequency: 4.753868460459699e-5
allele num: 84142
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188419
  ensembl transcript: ENST00000483950
  gene symbol: CHM
  hgvsc: ENST00000483950.1:n.145C>T
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000350386
  ensembl transcript: ENST00000357749
  gene symbol: CHM
  hgvsc: ENST00000357749.2:c.116C>T
  hgvsp: ENSP00000350386.2:p.Ser39Leu
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000188419
  ensembl transcript: ENST00000467744
  gene symbol: CHM
  hgvsc: ENST00000467744.2:n.126C>T
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000362228
  ensembl transcript: ENST00000358786
  gene symbol: CHM
  hgvsc: ENST00000358786.4:c.116C>T
  hgvsp: ENSP00000362228.3:p.Ser39Leu
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000441728
  ensembl transcript: ENST00000537751
  gene symbol: CHM
  hgvsc: ENST00000537751.1:c.-131+19993C>T
  variant of: http://identifiers.org/hgnc/1940
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3306
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10437
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1624
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30466
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2822
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5786
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1972
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4883
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5931
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1105
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3443
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser39Leu
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum

X-85282521-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24085282521
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24085282521
    reference: chr 0
allele count: 2
allele frequency: 2.31755081230156e-5
allele num: 86298
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000441728
  ensembl transcript: ENST00000537751
  gene symbol: CHM
  hgvsc: ENST00000537751.1:c.-131+19967T>C
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188419
  ensembl transcript: ENST00000483950
  gene symbol: CHM
  hgvsc: ENST00000483950.1:n.119T>C
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188419
  ensembl transcript: ENST00000467744
  gene symbol: CHM
  hgvsc: ENST00000467744.2:n.100T>C
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000362228
  ensembl transcript: ENST00000358786
  gene symbol: CHM
  hgvsc: ENST00000358786.4:c.90T>C
  hgvsp: ENST00000358786.4:c.90T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000350386
  ensembl transcript: ENST00000357749
  gene symbol: CHM
  hgvsc: ENST00000357749.2:c.90T>C
  hgvsp: ENST00000357749.2:c.90T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1940
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32187
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11560
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2826
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5907
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2029
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5927
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1535
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1549
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser30Ser
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

X-85282529-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24085282529
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24085282529
    reference: chr 0
allele count: 1
allele frequency: 1.155615133935794e-5
allele num: 86534
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000362228
  ensembl transcript: ENST00000358786
  gene symbol: CHM
  hgvsc: ENST00000358786.4:c.82T>G
  hgvsp: ENSP00000362228.3:p.Ser28Ala
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000350386
  ensembl transcript: ENST00000357749
  gene symbol: CHM
  hgvsc: ENST00000357749.2:c.82T>G
  hgvsp: ENSP00000350386.2:p.Ser28Ala
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188419
  ensembl transcript: ENST00000467744
  gene symbol: CHM
  hgvsc: ENST00000467744.2:n.92T>G
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000441728
  ensembl transcript: ENST00000537751
  gene symbol: CHM
  hgvsc: ENST00000537751.1:c.-131+19959T>G
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188419
  ensembl transcript: ENST00000483950
  gene symbol: CHM
  hgvsc: ENST00000483950.1:n.111T>G
  variant of: http://identifiers.org/hgnc/1940
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5928
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11665
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2827
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1557
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1551
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1378
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5144
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5926
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ser28Ala
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

X-85282569-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24085282569
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24085282569
    reference: chr 0
allele count: 10
allele frequency: 1.165555503753089e-4
allele num: 85796
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl transcript: ENST00000483950
  gene symbol: CHM
  hgvsc: ENST00000483950.1:n.79-8T>G
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000362228
  ensembl transcript: ENST00000358786
  gene symbol: CHM
  hgvsc: ENST00000358786.4:c.50-8T>G
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000350386
  ensembl transcript: ENST00000357749
  gene symbol: CHM
  hgvsc: ENST00000357749.2:c.50-8T>G
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000441728
  ensembl transcript: ENST00000537751
  gene symbol: CHM
  hgvsc: ENST00000537751.1:c.-131+19919T>G
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl transcript: ENST00000467744
  gene symbol: CHM
  hgvsc: ENST00000467744.2:n.60-8T>G
  variant of: http://identifiers.org/hgnc/1940
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3012
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2817
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28362
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1768
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1616
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11727
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 431
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 87
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  variant carriers: 1
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1508
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 4944
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1515
  bin: 8.25e1
  variant carriers: 0
hgvs: c.50-8T>G
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum

X-85282577-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24085282577
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24085282577
    reference: chr 0
allele count: 1
allele frequency: 1.175737481335168e-5
allele num: 85053
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl transcript: ENST00000483950
  gene symbol: CHM
  hgvsc: ENST00000483950.1:n.79-16G>A
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000441728
  ensembl transcript: ENST00000537751
  gene symbol: CHM
  hgvsc: ENST00000537751.1:c.-131+19911G>A
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000362228
  ensembl transcript: ENST00000358786
  gene symbol: CHM
  hgvsc: ENST00000358786.4:c.50-16G>A
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl transcript: ENST00000467744
  gene symbol: CHM
  hgvsc: ENST00000467744.2:n.60-16G>A
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000350386
  ensembl transcript: ENST00000357749
  gene symbol: CHM
  hgvsc: ENST00000357749.2:c.50-16G>A
  variant of: http://identifiers.org/hgnc/1940
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25384
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2237
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.75e1
  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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  bin: 3.25e1
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genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5925
  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1514
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1481
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4809
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 836
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: VQSLOD

X-85282578-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24085282578
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24085282578
    reference: chr 0
allele count: 4
allele frequency: 4.712313274586494e-5
allele num: 84884
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl transcript: ENST00000467744
  gene symbol: CHM
  hgvsc: ENST00000467744.2:n.60-17G>T
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000362228
  ensembl transcript: ENST00000358786
  gene symbol: CHM
  hgvsc: ENST00000358786.4:c.50-17G>T
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000350386
  ensembl transcript: ENST00000357749
  gene symbol: CHM
  hgvsc: ENST00000357749.2:c.50-17G>T
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl transcript: ENST00000483950
  gene symbol: CHM
  hgvsc: ENST00000483950.1:n.79-17G>T
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000441728
  ensembl transcript: ENST00000537751
  gene symbol: CHM
  hgvsc: ENST00000537751.1:c.-131+19910G>T
  variant of: http://identifiers.org/hgnc/1940
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 429
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
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
  all individuals: 4776
  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 915
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum

X-85282579-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24085282579
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24085282579
    reference: chr 0
allele count: 19
allele frequency: 2.244907604329127e-4
allele num: 84636
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000350386
  ensembl transcript: ENST00000357749
  gene symbol: CHM
  hgvsc: ENST00000357749.2:c.50-18G>A
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000362228
  ensembl transcript: ENST00000358786
  gene symbol: CHM
  hgvsc: ENST00000358786.4:c.50-18G>A
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000441728
  ensembl transcript: ENST00000537751
  gene symbol: CHM
  hgvsc: ENST00000537751.1:c.-131+19909G>A
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl transcript: ENST00000483950
  gene symbol: CHM
  hgvsc: ENST00000483950.1:n.79-18G>A
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl transcript: ENST00000467744
  gene symbol: CHM
  hgvsc: ENST00000467744.2:n.60-18G>A
  variant of: http://identifiers.org/hgnc/1940
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6028
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2438
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 4
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 2
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 2
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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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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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
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 5939
  bin: 9.75e1
  variant carriers: 16
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD

X-85282580-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24085282580
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24085282580
    reference: chr 0
allele count: 14
allele frequency: 1.661740792175575e-4
allele num: 84249
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000441728
  ensembl transcript: ENST00000537751
  gene symbol: CHM
  hgvsc: ENST00000537751.1:c.-131+19908C>T
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000362228
  ensembl transcript: ENST00000358786
  gene symbol: CHM
  hgvsc: ENST00000358786.4:c.50-19C>T
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl transcript: ENST00000483950
  gene symbol: CHM
  hgvsc: ENST00000483950.1:n.79-19C>T
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl transcript: ENST00000467744
  gene symbol: CHM
  hgvsc: ENST00000467744.2:n.60-19C>T
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000350386
  ensembl transcript: ENST00000357749
  gene symbol: CHM
  hgvsc: ENST00000357749.2:c.50-19C>T
  variant of: http://identifiers.org/hgnc/1940
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 156
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  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7140
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.25e1
  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: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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
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genotype quality: GenotypeQuality
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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: 988
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

X-85282580-G-GT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24085282580
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24085282581
    reference: chr 0
allele count: 2
allele frequency: 2.373915417393678e-5
allele num: 84249
alternate allele: GT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000362228
  ensembl transcript: ENST00000358786
  gene symbol: CHM
  hgvsc: ENST00000358786.4:c.50-20dupA
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl transcript: ENST00000483950
  gene symbol: CHM
  hgvsc: ENST00000483950.1:n.79-20dupA
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000441728
  ensembl transcript: ENST00000537751
  gene symbol: CHM
  hgvsc: ENST00000537751.1:c.-131+19907dupA
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000350386
  ensembl transcript: ENST00000357749
  gene symbol: CHM
  hgvsc: ENST00000357749.2:c.50-20dupA
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl transcript: ENST00000467744
  gene symbol: CHM
  hgvsc: ENST00000467744.2:n.60-20dupA
  variant of: http://identifiers.org/hgnc/1940
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1626
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2651
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22507
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2855
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1923
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7140
  bin: 1.25e1
  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: 610
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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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  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
reference allele: G
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

X-85282590-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24085282590
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24085282590
    reference: chr 0
allele count: 13
allele frequency: 1.588873000158887e-4
allele num: 81819
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl transcript: ENST00000467744
  gene symbol: CHM
  hgvsc: ENST00000467744.2:n.60-29C>A
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000441728
  ensembl transcript: ENST00000537751
  gene symbol: CHM
  hgvsc: ENST00000537751.1:c.-131+19898C>A
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl transcript: ENST00000483950
  gene symbol: CHM
  hgvsc: ENST00000483950.1:n.79-29C>A
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000350386
  ensembl transcript: ENST00000357749
  gene symbol: CHM
  hgvsc: ENST00000357749.2:c.50-29C>A
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000362228
  ensembl transcript: ENST00000358786
  gene symbol: CHM
  hgvsc: ENST00000358786.4:c.50-29C>A
  variant of: http://identifiers.org/hgnc/1940
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: DP

X-85282593-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24085282593
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24085282593
    reference: chr 0
allele count: 5
allele frequency: 6.219833806040702e-5
allele num: 80388
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000441728
  ensembl transcript: ENST00000537751
  gene symbol: CHM
  hgvsc: ENST00000537751.1:c.-131+19895A>G
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl transcript: ENST00000467744
  gene symbol: CHM
  hgvsc: ENST00000467744.2:n.60-32A>G
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000350386
  ensembl transcript: ENST00000357749
  gene symbol: CHM
  hgvsc: ENST00000357749.2:c.50-32A>G
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000362228
  ensembl transcript: ENST00000358786
  gene symbol: CHM
  hgvsc: ENST00000358786.4:c.50-32A>G
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl transcript: ENST00000483950
  gene symbol: CHM
  hgvsc: ENST00000483950.1:n.79-32A>G
  variant of: http://identifiers.org/hgnc/1940
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 920
  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 depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ

X-85282595-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24085282595
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24085282595
    reference: chr 0
allele count: 3
allele frequency: 3.804451207913259e-5
allele num: 78855
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000362228
  ensembl transcript: ENST00000358786
  gene symbol: CHM
  hgvsc: ENST00000358786.4:c.50-34A>C
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl transcript: ENST00000483950
  gene symbol: CHM
  hgvsc: ENST00000483950.1:n.79-34A>C
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl transcript: ENST00000467744
  gene symbol: CHM
  hgvsc: ENST00000467744.2:n.60-34A>C
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000441728
  ensembl transcript: ENST00000537751
  gene symbol: CHM
  hgvsc: ENST00000537751.1:c.-131+19893A>C
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000350386
  ensembl transcript: ENST00000357749
  gene symbol: CHM
  hgvsc: ENST00000357749.2:c.50-34A>C
  variant of: http://identifiers.org/hgnc/1940
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: T
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

X-85302459-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24085302459
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24085302459
    reference: chr 0
allele count: 5
allele frequency: 7.232122193936589e-5
allele num: 69136
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000362228
  ensembl transcript: ENST00000358786
  gene symbol: CHM
  hgvsc: ENST00000358786.4:c.49+29A>G
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000441728
  ensembl transcript: ENST00000537751
  gene symbol: CHM
  hgvsc: ENST00000537751.1:c.-131+29A>G
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000350386
  ensembl transcript: ENST00000357749
  gene symbol: CHM
  hgvsc: ENST00000357749.2:c.49+29A>G
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl transcript: ENST00000483950
  gene symbol: CHM
  hgvsc: ENST00000483950.1:n.78+29A>G
  variant of: http://identifiers.org/hgnc/1940
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1295
  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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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16890
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2985
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8048
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1757
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP

X-85302465-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24085302465
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24085302465
    reference: chr 0
allele count: 1
allele frequency: 1.441171384100997e-5
allele num: 69388
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000441728
  ensembl transcript: ENST00000537751
  gene symbol: CHM
  hgvsc: ENST00000537751.1:c.-131+23T>C
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000362228
  ensembl transcript: ENST00000358786
  gene symbol: CHM
  hgvsc: ENST00000358786.4:c.49+23T>C
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000350386
  ensembl transcript: ENST00000357749
  gene symbol: CHM
  hgvsc: ENST00000357749.2:c.49+23T>C
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl transcript: ENST00000483950
  gene symbol: CHM
  hgvsc: ENST00000483950.1:n.78+23T>C
  variant of: http://identifiers.org/hgnc/1940
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5546
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7321
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18798
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15920
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1441
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2176
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1829
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1886
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 994
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2379
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21581
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1487
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
reference allele: A
site quality: MQ
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

X-85302476-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24085302476
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24085302476
    reference: chr 0
allele count: 1
allele frequency: 1.425171376858067e-5
allele num: 70167
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl transcript: ENST00000483950
  gene symbol: CHM
  hgvsc: ENST00000483950.1:n.78+12C>G
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000441728
  ensembl transcript: ENST00000537751
  gene symbol: CHM
  hgvsc: ENST00000537751.1:c.-131+12C>G
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000362228
  ensembl transcript: ENST00000358786
  gene symbol: CHM
  hgvsc: ENST00000358786.4:c.49+12C>G
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000350386
  ensembl transcript: ENST00000357749
  gene symbol: CHM
  hgvsc: ENST00000357749.2:c.49+12C>G
  variant of: http://identifiers.org/hgnc/1940
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6023
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21025
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15641
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2176
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5628
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1522
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 747
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24543
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17559
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 732
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1406
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8046
  bin: 9.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQ

X-85302499-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24085302499
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24085302499
    reference: chr 0
allele count: 2
allele frequency: 2.901073397156948e-5
allele num: 68940
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000362228
  ensembl transcript: ENST00000358786
  gene symbol: CHM
  hgvsc: ENST00000358786.4:c.38T>C
  hgvsp: ENSP00000362228.3:p.Val13Ala
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000441728
  ensembl transcript: ENST00000537751
  gene symbol: CHM
  hgvsc: ENST00000537751.1:c.-142T>C
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000350386
  ensembl transcript: ENST00000357749
  gene symbol: CHM
  hgvsc: ENST00000357749.2:c.38T>C
  hgvsp: ENSP00000350386.2:p.Val13Ala
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188419
  ensembl transcript: ENST00000483950
  gene symbol: CHM
  hgvsc: ENST00000483950.1:n.67T>C
  variant of: http://identifiers.org/hgnc/1940
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16354
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18867
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6685
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6019
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2176
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 5.75e1
  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
  all individuals: 980
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1153
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 663
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8045
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genotype quality: GenotypeQuality
  all individuals: 546
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1216
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22948
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Val13Ala
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum

X-85302500-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24085302500
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24085302500
    reference: chr 0
allele count: 2
allele frequency: 2.910360884749709e-5
allele num: 68720
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000350386
  ensembl transcript: ENST00000357749
  gene symbol: CHM
  hgvsc: ENST00000357749.2:c.37G>C
  hgvsp: ENSP00000350386.2:p.Val13Leu
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000362228
  ensembl transcript: ENST00000358786
  gene symbol: CHM
  hgvsc: ENST00000358786.4:c.37G>C
  hgvsp: ENSP00000362228.3:p.Val13Leu
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188419
  ensembl transcript: ENST00000483950
  gene symbol: CHM
  hgvsc: ENST00000483950.1:n.66G>C
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000441728
  ensembl transcript: ENST00000537751
  gene symbol: CHM
  hgvsc: ENST00000537751.1:c.-143G>C
  variant of: http://identifiers.org/hgnc/1940
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6121
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2176
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16426
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18561
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6697
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1237
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1020
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22651
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1771
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19594
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1170
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8046
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Val13Leu
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

X-85302505-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24085302505
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24085302505
    reference: chr 0
allele count: 1
allele frequency: 1.472298699960248e-5
allele num: 67921
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000362228
  ensembl transcript: ENST00000358786
  gene symbol: CHM
  hgvsc: ENST00000358786.4:c.32T>A
  hgvsp: ENSP00000362228.3:p.Val11Glu
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188419
  ensembl transcript: ENST00000483950
  gene symbol: CHM
  hgvsc: ENST00000483950.1:n.61T>A
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000350386
  ensembl transcript: ENST00000357749
  gene symbol: CHM
  hgvsc: ENST00000357749.2:c.32T>A
  hgvsp: ENSP00000350386.2:p.Val11Glu
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000441728
  ensembl transcript: ENST00000537751
  gene symbol: CHM
  hgvsc: ENST00000537751.1:c.-148T>A
  variant of: http://identifiers.org/hgnc/1940
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6723
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2176
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6754
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16884
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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
  all individuals: 869
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 8045
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1220
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 540
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1720
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
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genotype quality: GenotypeQuality
  all individuals: 635
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1331
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 581
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val11Glu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS

X-85302508-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24085302508
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24085302508
    reference: chr 0
allele count: 23
allele frequency: 3.42583076396026e-4
allele num: 67137
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000350386
  ensembl transcript: ENST00000357749
  gene symbol: CHM
  hgvsc: ENST00000357749.2:c.29A>G
  hgvsp: ENSP00000350386.2:p.Asp10Gly
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000441728
  ensembl transcript: ENST00000537751
  gene symbol: CHM
  hgvsc: ENST00000537751.1:c.-151A>G
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000362228
  ensembl transcript: ENST00000358786
  gene symbol: CHM
  hgvsc: ENST00000358786.4:c.29A>G
  hgvsp: ENSP00000362228.3:p.Asp10Gly
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188419
  ensembl transcript: ENST00000483950
  gene symbol: CHM
  hgvsc: ENST00000483950.1:n.58A>G
  variant of: http://identifiers.org/hgnc/1940
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6684
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1399
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  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 17196
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7256
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  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 881
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16120
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2176
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 3.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 259
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1274
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1428
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 8058
  bin: 9.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 1642
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 507
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20204
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 621
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20961
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 104
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1412
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asp10Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
population: African
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: QD

X-85302513-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24085302513
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24085302513
    reference: chr 0
allele count: 2
allele frequency: 3.026955034582961e-5
allele num: 66073
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000441728
  ensembl transcript: ENST00000537751
  gene symbol: CHM
  hgvsc: ENST00000537751.1:c.-156G>A
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000350386
  ensembl transcript: ENST00000357749
  gene symbol: CHM
  hgvsc: ENST00000357749.2:c.24G>A
  hgvsp: ENST00000357749.2:c.24G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000362228
  ensembl transcript: ENST00000358786
  gene symbol: CHM
  hgvsc: ENST00000358786.4:c.24G>A
  hgvsp: ENST00000358786.4:c.24G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188419
  ensembl transcript: ENST00000483950
  gene symbol: CHM
  hgvsc: ENST00000483950.1:n.53G>A
  variant of: http://identifiers.org/hgnc/1940
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2175
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6535
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 17712
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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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genotype quality: GenotypeQuality
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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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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8044
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Glu8Glu
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum

X-85302516-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24085302516
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24085302516
    reference: chr 0
allele count: 1
allele frequency: 1.533577683377551e-5
allele num: 65207
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000350386
  ensembl transcript: ENST00000357749
  gene symbol: CHM
  hgvsc: ENST00000357749.2:c.21G>T
  hgvsp: ENST00000357749.2:c.21G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188419
  ensembl transcript: ENST00000483950
  gene symbol: CHM
  hgvsc: ENST00000483950.1:n.50G>T
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000441728
  ensembl transcript: ENST00000537751
  gene symbol: CHM
  hgvsc: ENST00000537751.1:c.-159G>T
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000362228
  ensembl transcript: ENST00000358786
  gene symbol: CHM
  hgvsc: ENST00000358786.4:c.21G>T
  hgvsp: ENST00000358786.4:c.21G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1940
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8388
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
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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: 377
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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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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2176
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1939
  bin: 7.5e0
  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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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 788
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8042
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ser7Ser
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

X-85302520-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24085302520
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24085302520
    reference: chr 0
allele count: 1
allele frequency: 1.559673092519808e-5
allele num: 64116
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000362228
  ensembl transcript: ENST00000358786
  gene symbol: CHM
  hgvsc: ENST00000358786.4:c.17C>T
  hgvsp: ENSP00000362228.3:p.Pro6Leu
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188419
  ensembl transcript: ENST00000483950
  gene symbol: CHM
  hgvsc: ENST00000483950.1:n.46C>T
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000441728
  ensembl transcript: ENST00000537751
  gene symbol: CHM
  hgvsc: ENST00000537751.1:c.-163C>T
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000350386
  ensembl transcript: ENST00000357749
  gene symbol: CHM
  hgvsc: ENST00000357749.2:c.17C>T
  hgvsp: ENSP00000350386.2:p.Pro6Leu
  variant of: http://identifiers.org/hgnc/1940
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6114
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1753
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  variant carriers: 0
hgvs: p.Pro6Leu
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum

X-85302526-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24085302526
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24085302526
    reference: chr 0
allele count: 1
allele frequency: 1.594667432107034e-5
allele num: 62709
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000350386
  ensembl transcript: ENST00000357749
  gene symbol: CHM
  hgvsc: ENST00000357749.2:c.11C>G
  hgvsp: ENSP00000350386.2:p.Thr4Ser
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000362228
  ensembl transcript: ENST00000358786
  gene symbol: CHM
  hgvsc: ENST00000358786.4:c.11C>G
  hgvsp: ENSP00000362228.3:p.Thr4Ser
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188419
  ensembl transcript: ENST00000483950
  gene symbol: CHM
  hgvsc: ENST00000483950.1:n.40C>G
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000441728
  ensembl transcript: ENST00000537751
  gene symbol: CHM
  hgvsc: ENST00000537751.1:c.-169C>G
  variant of: http://identifiers.org/hgnc/1940
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  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
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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  bin: 6.75e1
  variant carriers: 0
hgvs: p.Thr4Ser
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

X-85302527-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24085302527
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24085302527
    reference: chr 0
allele count: 1
allele frequency: 1.602564102564103e-5
allele num: 62400
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000441728
  ensembl transcript: ENST00000537751
  gene symbol: CHM
  hgvsc: ENST00000537751.1:c.-170A>G
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000362228
  ensembl transcript: ENST00000358786
  gene symbol: CHM
  hgvsc: ENST00000358786.4:c.10A>G
  hgvsp: ENSP00000362228.3:p.Thr4Ala
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000350386
  ensembl transcript: ENST00000357749
  gene symbol: CHM
  hgvsc: ENST00000357749.2:c.10A>G
  hgvsp: ENSP00000350386.2:p.Thr4Ala
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188419
  ensembl transcript: ENST00000483950
  gene symbol: CHM
  hgvsc: ENST00000483950.1:n.39A>G
  variant of: http://identifiers.org/hgnc/1940
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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hgvs: p.Thr4Ala
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

X-85302529-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24085302529
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24085302529
    reference: chr 0
allele count: 9
allele frequency: 1.460896665909165e-4
allele num: 61606
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000441728
  ensembl transcript: ENST00000537751
  gene symbol: CHM
  hgvsc: ENST00000537751.1:c.-172A>G
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188419
  ensembl transcript: ENST00000483950
  gene symbol: CHM
  hgvsc: ENST00000483950.1:n.37A>G
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000362228
  ensembl transcript: ENST00000358786
  gene symbol: CHM
  hgvsc: ENST00000358786.4:c.8A>G
  hgvsp: ENSP00000362228.3:p.Asp3Gly
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000350386
  ensembl transcript: ENST00000357749
  gene symbol: CHM
  hgvsc: ENST00000357749.2:c.8A>G
  hgvsp: ENSP00000350386.2:p.Asp3Gly
  variant of: http://identifiers.org/hgnc/1940
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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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: 1
genotype quality: GenotypeQuality
  all individuals: 1968
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2080
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1360
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8044
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 24115
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 3438
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 650
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asp3Gly
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

X-85302531-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24085302531
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24085302531
    reference: chr 0
allele count: 1
allele frequency: 1.640473768824437e-5
allele num: 60958
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000350386
  ensembl transcript: ENST00000357749
  gene symbol: CHM
  hgvsc: ENST00000357749.2:c.6G>T
  hgvsp: ENST00000357749.2:c.6G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188419
  ensembl transcript: ENST00000483950
  gene symbol: CHM
  hgvsc: ENST00000483950.1:n.35G>T
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000362228
  ensembl transcript: ENST00000358786
  gene symbol: CHM
  hgvsc: ENST00000358786.4:c.6G>T
  hgvsp: ENST00000358786.4:c.6G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000441728
  ensembl transcript: ENST00000537751
  gene symbol: CHM
  hgvsc: ENST00000537751.1:c.-174G>T
  variant of: http://identifiers.org/hgnc/1940
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19131
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 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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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1956
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala2Ala
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum

X-85302550-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24085302550
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24085302550
    reference: chr 0
allele count: 1
allele frequency: 1.799078871617732e-5
allele num: 55584
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000350386
  ensembl transcript: ENST00000357749
  gene symbol: CHM
  hgvsc: ENST00000357749.2:c.-14C>T
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188419
  ensembl transcript: ENST00000483950
  gene symbol: CHM
  hgvsc: ENST00000483950.1:n.16C>T
  variant of: http://identifiers.org/hgnc/1940
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7009
  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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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19496
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 1
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
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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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: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4225
  num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum

X-85302551-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24085302551
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24085302551
    reference: chr 0
allele count: 1
allele frequency: 1.801866733936358e-5
allele num: 55498
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000350386
  ensembl transcript: ENST00000357749
  gene symbol: CHM
  hgvsc: ENST00000357749.2:c.-15A>G
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188419
  ensembl transcript: ENST00000483950
  gene symbol: CHM
  hgvsc: ENST00000483950.1:n.15A>G
  variant of: http://identifiers.org/hgnc/1940
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
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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: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  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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  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 quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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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  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
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  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5764
  num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD

X-85302556-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24085302556
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24085302556
    reference: chr 0
allele count: 7
allele frequency: 1.284380103117374e-4
allele num: 54501
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188419
  ensembl transcript: ENST00000483950
  gene symbol: CHM
  hgvsc: ENST00000483950.1:n.10A>C
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000350386
  ensembl transcript: ENST00000357749
  gene symbol: CHM
  hgvsc: ENST00000357749.2:c.-20A>C
  variant of: http://identifiers.org/hgnc/1940
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2006
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 2
genotype depth: GenotypeDepth
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  variant carriers: 2
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 3
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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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  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 2486
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: South Asian
population: Latino
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

X-85302562-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24085302562
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24085302562
    reference: chr 0
allele count: 1
allele frequency: 1.88433925643973e-5
allele num: 53069
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000350386
  ensembl transcript: ENST00000357749
  gene symbol: CHM
  hgvsc: ENST00000357749.2:c.-26A>G
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188419
  ensembl transcript: ENST00000483950
  gene symbol: CHM
  hgvsc: ENST00000483950.1:n.4A>G
  variant of: http://identifiers.org/hgnc/1940
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
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genotype depth: GenotypeDepth
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  bin: 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 depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 599
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genotype depth: GenotypeDepth
  all individuals: 300
  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
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 463
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  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 1
  allele frequency: 1.844678103670909e-4
  allele num: 5421
  num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQ

X-85302565-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24085302565
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24085302565
    reference: chr 0
allele count: 2
allele frequency: 3.816793893129771e-5
allele num: 52400
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000188419
  ensembl protein: ENSP00000350386
  ensembl transcript: ENST00000357749
  gene symbol: CHM
  hgvsc: ENST00000357749.2:c.-29A>G
  variant of: http://identifiers.org/hgnc/1940
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188419
  ensembl transcript: ENST00000483950
  gene symbol: CHM
  hgvsc: ENST00000483950.1:n.1A>G
  variant of: http://identifiers.org/hgnc/1940
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1911
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 482
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  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5335
  num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD

X-85302567-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24085302567
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24085302567
    reference: chr 0
allele count: 4
allele frequency: 7.75283947745862e-5
allele num: 51594
alternate allele: T
canonical: true
consequence: upstream gene
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2172
  bin: 9.75e1
  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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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 3843
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population: African
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  allele frequency: 0.0e0
  allele num: 5872
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population: South Asian
  type: Population
  allele count: 4
  allele frequency: 6.433971368827409e-4
  allele num: 6217
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5187
  num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

X-85302579-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24085302579
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24085302579
    reference: chr 0
allele count: 52
allele frequency: 1.10321417205898e-3
allele num: 47135
alternate allele: G
canonical: true
consequence: upstream gene
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 1200
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  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 51
  allele frequency: 1.535219747140277e-2
  allele num: 3322
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5482
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5984
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 2126
  num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD

X-85302584-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24085302584
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24085302584
    reference: chr 0
allele count: 1
allele frequency: 2.178839114519784e-5
allele num: 45896
alternate allele: G
canonical: true
consequence: upstream gene
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11226
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 599
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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: 3873
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population: Latino
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population: East Asian
population: Other
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site quality: DP
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site quality: InbreedingCoeff
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X-85302588-T-C
type: Variant
location: Region
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    reference: chr 0
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    type: ExactPosition
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    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 44659
alternate allele: C
canonical: true
consequence: upstream gene
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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population: African
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population: South Asian
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population: European (Non-Finnish)
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population: Latino
population: East Asian
population: Other
reference allele: T
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: QD
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site quality: FS
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X-85403587-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24085403587
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24085403587
    reference: chr 0
allele count: 1
allele frequency: 1.160766105629716e-4
allele num: 8615
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000126733
  ensembl protein: ENSP00000421509
  ensembl transcript: ENST00000461604
  gene symbol: DACH2
  hgvsc: ENST00000461604.2:c.-38G>A
  variant of: http://identifiers.org/hgnc/16814
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000126733
  ensembl protein: ENSP00000362223
  ensembl transcript: ENST00000373131
  gene symbol: DACH2
  hgvsc: ENST00000373131.1:c.-38G>A
  variant of: http://identifiers.org/hgnc/16814
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
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  allele num: 362
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population: European (Finnish)
population: Other
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population: Latino
population: East Asian
population: African
reference allele: G
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site quality: ReadPosRankSum
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site quality: VQSLOD
site quality: InbreedingCoeff
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site quality: DP
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site quality: QD

X-85403636-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24085403636
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24085403636
    reference: chr 0
allele count: 1
allele frequency: 8.331944675887353e-5
allele num: 12002
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126733
  ensembl protein: ENSP00000362223
  ensembl transcript: ENST00000373131
  gene symbol: DACH2
  hgvsc: ENST00000373131.1:c.12C>T
  hgvsp: ENST00000373131.1:c.12C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16814
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126733
  ensembl protein: ENSP00000426837
  ensembl transcript: ENST00000506327
  gene symbol: DACH2
  hgvsc: ENST00000506327.2:c.12C>T
  hgvsp: ENST00000506327.2:c.12C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16814
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126733
  ensembl protein: ENSP00000421509
  ensembl transcript: ENST00000461604
  gene symbol: DACH2
  hgvsc: ENST00000461604.2:c.12C>T
  hgvsp: ENST00000461604.2:c.12C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16814
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
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  gene symbol: DACH2
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  hgvsp: ENST00000373125.4:c.12C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16814
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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hgvs: p.Ser4Ser
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: African
population: East Asian
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
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site quality: FS
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X-85403638-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24085403638
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24085403638
    reference: chr 0
allele count: 2
allele frequency: 1.581277672359266e-4
allele num: 12648
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126733
  ensembl protein: ENSP00000426837
  ensembl transcript: ENST00000506327
  gene symbol: DACH2
  hgvsc: ENST00000506327.2:c.14C>T
  hgvsp: ENSP00000426837.1:p.Ala5Val
  variant of: http://identifiers.org/hgnc/16814
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126733
  ensembl protein: ENSP00000362217
  ensembl transcript: ENST00000373125
  gene symbol: DACH2
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  variant of: http://identifiers.org/hgnc/16814
annotation: Annotation
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  ensembl protein: ENSP00000362223
  ensembl transcript: ENST00000373131
  gene symbol: DACH2
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  hgvsp: ENSP00000362223.1:p.Ala5Val
  variant of: http://identifiers.org/hgnc/16814
annotation: Annotation
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  consequence: missense_variant
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  ensembl protein: ENSP00000421509
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  gene symbol: DACH2
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  hgvsp: ENSP00000421509.1:p.Ala5Val
  variant of: http://identifiers.org/hgnc/16814
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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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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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala5Val
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

X-85403645-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24085403645
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24085403645
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 14017
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126733
  ensembl protein: ENSP00000421509
  ensembl transcript: ENST00000461604
  gene symbol: DACH2
  hgvsc: ENST00000461604.2:c.21A>G
  hgvsp: ENST00000461604.2:c.21A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16814
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126733
  ensembl protein: ENSP00000426837
  ensembl transcript: ENST00000506327
  gene symbol: DACH2
  hgvsc: ENST00000506327.2:c.21A>G
  hgvsp: ENST00000506327.2:c.21A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16814
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126733
  ensembl protein: ENSP00000362217
  ensembl transcript: ENST00000373125
  gene symbol: DACH2
  hgvsc: ENST00000373125.4:c.21A>G
  hgvsp: ENST00000373125.4:c.21A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16814
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126733
  ensembl protein: ENSP00000362223
  ensembl transcript: ENST00000373131
  gene symbol: DACH2
  hgvsc: ENST00000373131.1:c.21A>G
  hgvsp: ENST00000373131.1:c.21A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16814
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
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  variant carriers: 0
hgvs: p.Pro7Pro
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: A
site quality: MQ
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

X-85403647-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24085403647
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24085403647
    reference: chr 0
allele count: 1
allele frequency: 6.900835001035126e-5
allele num: 14491
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126733
  ensembl protein: ENSP00000362223
  ensembl transcript: ENST00000373131
  gene symbol: DACH2
  hgvsc: ENST00000373131.1:c.23T>C
  hgvsp: ENSP00000362223.1:p.Val8Ala
  variant of: http://identifiers.org/hgnc/16814
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126733
  ensembl protein: ENSP00000421509
  ensembl transcript: ENST00000461604
  gene symbol: DACH2
  hgvsc: ENST00000461604.2:c.23T>C
  hgvsp: ENSP00000421509.1:p.Val8Ala
  variant of: http://identifiers.org/hgnc/16814
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126733
  ensembl protein: ENSP00000426837
  ensembl transcript: ENST00000506327
  gene symbol: DACH2
  hgvsc: ENST00000506327.2:c.23T>C
  hgvsp: ENSP00000426837.1:p.Val8Ala
  variant of: http://identifiers.org/hgnc/16814
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126733
  ensembl protein: ENSP00000362217
  ensembl transcript: ENST00000373125
  gene symbol: DACH2
  hgvsc: ENST00000373125.4:c.23T>C
  hgvsp: ENSP00000362217.4:p.Val8Ala
  variant of: http://identifiers.org/hgnc/16814
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  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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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
hgvs: p.Val8Ala
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

X-85403653-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24085403653
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24085403653
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 15817
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126733
  ensembl protein: ENSP00000362217
  ensembl transcript: ENST00000373125
  gene symbol: DACH2
  hgvsc: ENST00000373125.4:c.29C>A
  hgvsp: ENSP00000362217.4:p.Ser10Tyr
  variant of: http://identifiers.org/hgnc/16814
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126733
  ensembl protein: ENSP00000421509
  ensembl transcript: ENST00000461604
  gene symbol: DACH2
  hgvsc: ENST00000461604.2:c.29C>A
  hgvsp: ENSP00000421509.1:p.Ser10Tyr
  variant of: http://identifiers.org/hgnc/16814
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126733
  ensembl protein: ENSP00000362223
  ensembl transcript: ENST00000373131
  gene symbol: DACH2
  hgvsc: ENST00000373131.1:c.29C>A
  hgvsp: ENSP00000362223.1:p.Ser10Tyr
  variant of: http://identifiers.org/hgnc/16814
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126733
  ensembl protein: ENSP00000426837
  ensembl transcript: ENST00000506327
  gene symbol: DACH2
  hgvsc: ENST00000506327.2:c.29C>A
  hgvsp: ENSP00000426837.1:p.Ser10Tyr
  variant of: http://identifiers.org/hgnc/16814
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2752
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 1
hgvs: p.Ser10Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP

X-85403662-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24085403662
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24085403662
    reference: chr 0
allele count: 1
allele frequency: 5.351600128438403e-5
allele num: 18686
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126733
  ensembl protein: ENSP00000421509
  ensembl transcript: ENST00000461604
  gene symbol: DACH2
  hgvsc: ENST00000461604.2:c.38C>T
  hgvsp: ENSP00000421509.1:p.Ser13Phe
  variant of: http://identifiers.org/hgnc/16814
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126733
  ensembl protein: ENSP00000362217
  ensembl transcript: ENST00000373125
  gene symbol: DACH2
  hgvsc: ENST00000373125.4:c.38C>T
  hgvsp: ENSP00000362217.4:p.Ser13Phe
  variant of: http://identifiers.org/hgnc/16814
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126733
  ensembl protein: ENSP00000362223
  ensembl transcript: ENST00000373131
  gene symbol: DACH2
  hgvsc: ENST00000373131.1:c.38C>T
  hgvsp: ENSP00000362223.1:p.Ser13Phe
  variant of: http://identifiers.org/hgnc/16814
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126733
  ensembl protein: ENSP00000426837
  ensembl transcript: ENST00000506327
  gene symbol: DACH2
  hgvsc: ENST00000506327.2:c.38C>T
  hgvsp: ENSP00000426837.1:p.Ser13Phe
  variant of: http://identifiers.org/hgnc/16814
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3415
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 540
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  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
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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
  all individuals: 2758
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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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
  all individuals: 624
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 1390
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genotype quality: GenotypeQuality
  all individuals: 106
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser13Phe
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: African
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

X-85403680-C-CG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24085403680
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24085403681
    reference: chr 0
allele count: 1
allele frequency: 3.064194882794546e-5
allele num: 32635
alternate allele: CG
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000126733
  ensembl protein: ENSP00000362223
  ensembl transcript: ENST00000373131
  gene symbol: DACH2
  hgvsc: ENST00000373131.1:c.62dupG
  hgvsp: ENSP00000362223.1:p.Phe23IlefsTer19
  variant of: http://identifiers.org/hgnc/16814
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126733
  ensembl protein: ENSP00000421509
  ensembl transcript: ENST00000461604
  gene symbol: DACH2
  hgvsc: ENST00000461604.2:c.62dupG
  hgvsp: ENSP00000421509.1:p.Phe23IlefsTer19
  variant of: http://identifiers.org/hgnc/16814
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126733
  ensembl protein: ENSP00000426837
  ensembl transcript: ENST00000506327
  gene symbol: DACH2
  hgvsc: ENST00000506327.2:c.62dupG
  hgvsp: ENSP00000426837.1:p.Phe23IlefsTer19
  variant of: http://identifiers.org/hgnc/16814
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000126733
  ensembl protein: ENSP00000362217
  ensembl transcript: ENST00000373125
  gene symbol: DACH2
  hgvsc: ENST00000373125.4:c.62dupG
  hgvsp: ENSP00000362217.4:p.Phe23IlefsTer19
  variant of: http://identifiers.org/hgnc/16814
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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: 9411
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  variant carriers: 0
hgvs: p.Phe23IlefsTer19
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Latino
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

X-85403681-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24085403681
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24085403681
    reference: chr 0
allele count: 3
allele frequency: 8.826125330979699e-5
allele num: 33990
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126733
  ensembl protein: ENSP00000362223
  ensembl transcript: ENST00000373131
  gene symbol: DACH2
  hgvsc: ENST00000373131.1:c.57G>C
  hgvsp: ENST00000373131.1:c.57G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16814
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126733
  ensembl protein: ENSP00000362217
  ensembl transcript: ENST00000373125
  gene symbol: DACH2
  hgvsc: ENST00000373125.4:c.57G>C
  hgvsp: ENST00000373125.4:c.57G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16814
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126733
  ensembl protein: ENSP00000421509
  ensembl transcript: ENST00000461604
  gene symbol: DACH2
  hgvsc: ENST00000461604.2:c.57G>C
  hgvsp: ENST00000461604.2:c.57G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16814
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126733
  ensembl protein: ENSP00000426837
  ensembl transcript: ENST00000506327
  gene symbol: DACH2
  hgvsc: ENST00000506327.2:c.57G>C
  hgvsp: ENST00000506327.2:c.57G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16814
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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
  all individuals: 225
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Pro19Pro
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
population: African
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

X-85403685-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24085403685
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24085403685
    reference: chr 0
allele count: 1
allele frequency: 2.546213780108978e-5
allele num: 39274
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126733
  ensembl protein: ENSP00000426837
  ensembl transcript: ENST00000506327
  gene symbol: DACH2
  hgvsc: ENST00000506327.2:c.61G>A
  hgvsp: ENSP00000426837.1:p.Gly21Ser
  variant of: http://identifiers.org/hgnc/16814
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126733
  ensembl protein: ENSP00000362223
  ensembl transcript: ENST00000373131
  gene symbol: DACH2
  hgvsc: ENST00000373131.1:c.61G>A
  hgvsp: ENSP00000362223.1:p.Gly21Ser
  variant of: http://identifiers.org/hgnc/16814
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126733
  ensembl protein: ENSP00000362217
  ensembl transcript: ENST00000373125
  gene symbol: DACH2
  hgvsc: ENST00000373125.4:c.61G>A
  hgvsp: ENSP00000362217.4:p.Gly21Ser
  variant of: http://identifiers.org/hgnc/16814
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126733
  ensembl protein: ENSP00000421509
  ensembl transcript: ENST00000461604
  gene symbol: DACH2
  hgvsc: ENST00000461604.2:c.61G>A
  hgvsp: ENSP00000421509.1:p.Gly21Ser
  variant of: http://identifiers.org/hgnc/16814
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1780
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 538
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  variant carriers: 0
hgvs: p.Gly21Ser
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD

X-85403694-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24085403694
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24085403694
    reference: chr 0
allele count: 1
allele frequency: 2.076153303159905e-5
allele num: 48166
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126733
  ensembl protein: ENSP00000362223
  ensembl transcript: ENST00000373131
  gene symbol: DACH2
  hgvsc: ENST00000373131.1:c.70C>T
  hgvsp: ENSP00000362223.1:p.Arg24Trp
  variant of: http://identifiers.org/hgnc/16814
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126733
  ensembl protein: ENSP00000362217
  ensembl transcript: ENST00000373125
  gene symbol: DACH2
  hgvsc: ENST00000373125.4:c.70C>T
  hgvsp: ENSP00000362217.4:p.Arg24Trp
  variant of: http://identifiers.org/hgnc/16814
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126733
  ensembl protein: ENSP00000421509
  ensembl transcript: ENST00000461604
  gene symbol: DACH2
  hgvsc: ENST00000461604.2:c.70C>T
  hgvsp: ENSP00000421509.1:p.Arg24Trp
  variant of: http://identifiers.org/hgnc/16814
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126733
  ensembl protein: ENSP00000426837
  ensembl transcript: ENST00000506327
  gene symbol: DACH2
  hgvsc: ENST00000506327.2:c.70C>T
  hgvsp: ENSP00000426837.1:p.Arg24Trp
  variant of: http://identifiers.org/hgnc/16814
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1607
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  variant carriers: 2
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Arg24Trp
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
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X-85403710-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24085403710
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24085403710
    reference: chr 0
allele count: 1
allele frequency: 1.614543810646302e-5
allele num: 61937
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126733
  ensembl protein: ENSP00000426837
  ensembl transcript: ENST00000506327
  gene symbol: DACH2
  hgvsc: ENST00000506327.2:c.86A>G
  hgvsp: ENSP00000426837.1:p.Tyr29Cys
  variant of: http://identifiers.org/hgnc/16814
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126733
  ensembl protein: ENSP00000421509
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  gene symbol: DACH2
  hgvsc: ENST00000461604.2:c.86A>G
  hgvsp: ENSP00000421509.1:p.Tyr29Cys
  variant of: http://identifiers.org/hgnc/16814
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126733
  ensembl protein: ENSP00000362217
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  gene symbol: DACH2
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  variant of: http://identifiers.org/hgnc/16814
annotation: Annotation
  canonical: false
  consequence: missense_variant
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  ensembl transcript: ENST00000373131
  gene symbol: DACH2
  hgvsc: ENST00000373131.1:c.86A>G
  hgvsp: ENSP00000362223.1:p.Tyr29Cys
  variant of: http://identifiers.org/hgnc/16814
canonical: true
consequence: missense
filter: PASS
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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hgvs: p.Tyr29Cys
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP
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X-85403719-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24085403719
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24085403719
    reference: chr 0
allele count: 1
allele frequency: 1.487497582816428e-5
allele num: 67227
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126733
  ensembl protein: ENSP00000362223
  ensembl transcript: ENST00000373131
  gene symbol: DACH2
  hgvsc: ENST00000373131.1:c.95C>T
  hgvsp: ENSP00000362223.1:p.Pro32Leu
  variant of: http://identifiers.org/hgnc/16814
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126733
  ensembl protein: ENSP00000362217
  ensembl transcript: ENST00000373125
  gene symbol: DACH2
  hgvsc: ENST00000373125.4:c.95C>T
  hgvsp: ENSP00000362217.4:p.Pro32Leu
  variant of: http://identifiers.org/hgnc/16814
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126733
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  gene symbol: DACH2
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  hgvsp: ENSP00000421509.1:p.Pro32Leu
  variant of: http://identifiers.org/hgnc/16814
annotation: Annotation
  canonical: false
  consequence: missense_variant
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  ensembl protein: ENSP00000426837
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  gene symbol: DACH2
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  hgvsp: ENSP00000426837.1:p.Pro32Leu
  variant of: http://identifiers.org/hgnc/16814
canonical: true
consequence: missense
filter: PASS
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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hgvs: p.Pro32Leu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
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site quality: DP
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X-85403720-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24085403720
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24085403720
    reference: chr 0
allele count: 1
allele frequency: 1.47279743144128e-5
allele num: 67898
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126733
  ensembl protein: ENSP00000362217
  ensembl transcript: ENST00000373125
  gene symbol: DACH2
  hgvsc: ENST00000373125.4:c.96C>T
  hgvsp: ENST00000373125.4:c.96C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16814
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126733
  ensembl protein: ENSP00000426837
  ensembl transcript: ENST00000506327
  gene symbol: DACH2
  hgvsc: ENST00000506327.2:c.96C>T
  hgvsp: ENST00000506327.2:c.96C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16814
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126733
  ensembl protein: ENSP00000421509
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  gene symbol: DACH2
  hgvsc: ENST00000461604.2:c.96C>T
  hgvsp: ENST00000461604.2:c.96C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16814
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126733
  ensembl protein: ENSP00000362223
  ensembl transcript: ENST00000373131
  gene symbol: DACH2
  hgvsc: ENST00000373131.1:c.96C>T
  hgvsp: ENST00000373131.1:c.96C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16814
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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hgvs: p.Pro32Pro
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
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site quality: DP
site quality: MQ

X-85403730-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24085403730
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24085403730
    reference: chr 0
allele count: 1
allele frequency: 1.373966090516886e-5
allele num: 72782
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126733
  ensembl protein: ENSP00000362217
  ensembl transcript: ENST00000373125
  gene symbol: DACH2
  hgvsc: ENST00000373125.4:c.106C>T
  hgvsp: ENSP00000362217.4:p.Pro36Ser
  variant of: http://identifiers.org/hgnc/16814
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126733
  ensembl protein: ENSP00000421509
  ensembl transcript: ENST00000461604
  gene symbol: DACH2
  hgvsc: ENST00000461604.2:c.106C>T
  hgvsp: ENSP00000421509.1:p.Pro36Ser
  variant of: http://identifiers.org/hgnc/16814
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126733
  ensembl protein: ENSP00000426837
  ensembl transcript: ENST00000506327
  gene symbol: DACH2
  hgvsc: ENST00000506327.2:c.106C>T
  hgvsp: ENSP00000426837.1:p.Pro36Ser
  variant of: http://identifiers.org/hgnc/16814
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126733
  ensembl protein: ENSP00000362223
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  gene symbol: DACH2
  hgvsc: ENST00000373131.1:c.106C>T
  hgvsp: ENSP00000362223.1:p.Pro36Ser
  variant of: http://identifiers.org/hgnc/16814
canonical: true
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filter: PASS
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: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6973
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33027
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
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genotype depth: GenotypeDepth
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  bin: 5.75e1
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genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1365
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 676
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1033
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 901
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14141
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2635
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro36Ser
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD

X-85403731-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24085403731
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24085403731
    reference: chr 0
allele count: 91
allele frequency: 1.245074430823117e-3
allele num: 73088
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126733
  ensembl protein: ENSP00000362217
  ensembl transcript: ENST00000373125
  gene symbol: DACH2
  hgvsc: ENST00000373125.4:c.107C>T
  hgvsp: ENSP00000362217.4:p.Pro36Leu
  variant of: http://identifiers.org/hgnc/16814
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126733
  ensembl protein: ENSP00000426837
  ensembl transcript: ENST00000506327
  gene symbol: DACH2
  hgvsc: ENST00000506327.2:c.107C>T
  hgvsp: ENSP00000426837.1:p.Pro36Leu
  variant of: http://identifiers.org/hgnc/16814
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126733
  ensembl protein: ENSP00000421509
  ensembl transcript: ENST00000461604
  gene symbol: DACH2
  hgvsc: ENST00000461604.2:c.107C>T
  hgvsp: ENSP00000421509.1:p.Pro36Leu
  variant of: http://identifiers.org/hgnc/16814
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126733
  ensembl protein: ENSP00000362223
  ensembl transcript: ENST00000373131
  gene symbol: DACH2
  hgvsc: ENST00000373131.1:c.107C>T
  hgvsp: ENSP00000362223.1:p.Pro36Leu
  variant of: http://identifiers.org/hgnc/16814
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 4.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7122
  bin: 2.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3371
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33091
  bin: 2.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1700
  bin: 1.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 13504
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 3.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 918
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 13864
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 4.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1378
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2633
  bin: 6.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 1109
  bin: 5.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 8.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 9.75e1
  variant carriers: 57
hgvs: p.Pro36Leu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

X-85403733-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24085403733
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24085403733
    reference: chr 0
allele count: 1
allele frequency: 1.355509468233636e-5
allele num: 73773
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126733
  ensembl protein: ENSP00000362223
  ensembl transcript: ENST00000373131
  gene symbol: DACH2
  hgvsc: ENST00000373131.1:c.109C>T
  hgvsp: ENSP00000362223.1:p.Arg37Cys
  variant of: http://identifiers.org/hgnc/16814
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126733
  ensembl protein: ENSP00000426837
  ensembl transcript: ENST00000506327
  gene symbol: DACH2
  hgvsc: ENST00000506327.2:c.109C>T
  hgvsp: ENSP00000426837.1:p.Arg37Cys
  variant of: http://identifiers.org/hgnc/16814
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126733
  ensembl protein: ENSP00000421509
  ensembl transcript: ENST00000461604
  gene symbol: DACH2
  hgvsc: ENST00000461604.2:c.109C>T
  hgvsp: ENSP00000421509.1:p.Arg37Cys
  variant of: http://identifiers.org/hgnc/16814
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
hgvs: p.Arg37Cys
num of homozygotes: 0
reference allele: C

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3632
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 286
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 479
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.708e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.35e-1

MQ
type: SiteQuality
SIO_000300: 5.903e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

DP
type: SiteQuality
SIO_000300: 5.5943e5

QD
type: SiteQuality
SIO_000300: 4.31e0

VQSLOD
type: SiteQuality
SIO_000300: 4.43e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

GenotypeQuality
all individuals: 185
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 223
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 399
bin: 5.75e1
variant carriers: 2

South Asian
type: Population
allele count: 2
allele frequency: 5.506607929515419e-4
allele num: 3632
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.702702702702703e-3
allele num: 370
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.572327044025157e-3
allele num: 1272
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 136
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 479
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 286
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 7.205908845253108e-4
allele num: 5551
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 5.5943e5

VQSLOD
type: SiteQuality
SIO_000300: 4.43e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.35e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.708e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.6e-2

MQ
type: SiteQuality
SIO_000300: 5.903e1

QD
type: SiteQuality
SIO_000300: 4.31e0

GenotypeQuality
all individuals: 560
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 642
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 879
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2509
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10520
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1256
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 202
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2794
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1036
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5050
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

MQ
type: SiteQuality
SIO_000300: 5.521e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.31e-1

DP
type: SiteQuality
SIO_000300: 6.04769e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.65e-2

VQSLOD
type: SiteQuality
SIO_000300: -5.229e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.31e-1

QD
type: SiteQuality
SIO_000300: 1.289e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

GenotypeQuality
all individuals: 365
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1612
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1299
bin: 1.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1031
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.16319646388275e-4
allele num: 8597
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 732
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1696
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4558
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2280
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 177
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.3e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 6.900000000000001e-2

MQ
type: SiteQuality
SIO_000300: 5.881e1

VQSLOD
type: SiteQuality
SIO_000300: -2.553e2

FS
type: SiteQuality
SIO_000300: 2.37044e2

MQRankSum
type: SiteQuality
SIO_000300: -4.4e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.388e0

QD
type: SiteQuality
SIO_000300: 3.4e-1

DP
type: SiteQuality
SIO_000300: 5.89874e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.794e0

GenotypeQuality
all individuals: 266
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 451
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 399
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2306
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 681
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4475
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1008
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.161170459823502e-4
allele num: 8612
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 173
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1705
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.24e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.82e-2

MQ
type: SiteQuality
SIO_000300: 5.862e1

MQRankSum
type: SiteQuality
SIO_000300: 1.51e-1

DP
type: SiteQuality
SIO_000300: 5.72534e5

VQSLOD
type: SiteQuality
SIO_000300: -1.052e2

ClippingRankSum
type: SiteQuality
SIO_000300: -7.36e-1

QD
type: SiteQuality
SIO_000300: 2.94e0

FS
type: SiteQuality
SIO_000300: 1.49745e2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.157e0

GenotypeQuality
all individuals: 451
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 311
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2025
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1008
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 681
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 173
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2306
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 6.967022758941013e-4
allele num: 8612
num of homozygotes: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4475
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1705
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.94e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.82e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.052e2

DP
type: SiteQuality
SIO_000300: 5.72534e5

FS
type: SiteQuality
SIO_000300: 1.49745e2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.157e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.36e-1

MQ
type: SiteQuality
SIO_000300: 5.862e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.24e0

MQRankSum
type: SiteQuality
SIO_000300: 1.51e-1

GenotypeQuality
all individuals: 244
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 5.25e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4807
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 181
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1645
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 970
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.239641657334827e-4
allele num: 8930
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 719
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2374
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.58572e2

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.25e-2

MQRankSum
type: SiteQuality
SIO_000300: -3.61e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.21e-1

DP
type: SiteQuality
SIO_000300: 5.31603e5

BaseQRankSum
type: SiteQuality
SIO_000300: -3.129e0

VQSLOD
type: SiteQuality
SIO_000300: -6.267e1

QD
type: SiteQuality
SIO_000300: 7.2e-1

MQ
type: SiteQuality
SIO_000300: 5.883e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.493e0

GenotypeQuality
all individuals: 898
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 449
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 372
bin: 8.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 7.633587786259542e-4
allele num: 1310
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 179
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8555
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2273
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4850
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 699
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.4e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.880000000000001e0

DP
type: SiteQuality
SIO_000300: 5.00586e5

BaseQRankSum
type: SiteQuality
SIO_000300: -4.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.51e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.058e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.51e-1

MQ
type: SiteQuality
SIO_000300: 5.766e1

MQRankSum
type: SiteQuality
SIO_000300: 1.1e0

GenotypeQuality
all individuals: 68
bin: 5.75e1
variant carriers: 9

GenotypeQuality
all individuals: 481
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 577
bin: 3.75e1
variant carriers: 2

African
type: Population
allele count: 1
allele frequency: 4.466279589102278e-4
allele num: 2239
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 175
num of homozygotes: 0

South Asian
type: Population
allele count: 13
allele frequency: 2.683178534571723e-3
allele num: 4845
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 809
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 7.993605115907274e-4
allele num: 1251
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 87
allele frequency: 1.02521800612774e-2
allele num: 8486
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 2.881844380403458e-3
allele num: 694
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.813e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.45e0

MQRankSum
type: SiteQuality
SIO_000300: 5.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.38e0

DP
type: SiteQuality
SIO_000300: 4.96477e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.61e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.62e-2

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

GenotypeQuality
all individuals: 391
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 426
bin: 7.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4749
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 697
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2053
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7887
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 588
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 168
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 5.600000000000001e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.96e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.666e0

MQRankSum
type: SiteQuality
SIO_000300: -6.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.1e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.31e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.62e-1

DP
type: SiteQuality
SIO_000300: 4.78941e5

GenotypeQuality
all individuals: 666
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 772
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 168
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 592
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 867
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4762
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 697
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2041
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7932
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.78897e5

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.88e-2

QD
type: SiteQuality
SIO_000300: 2.312e1

VQSLOD
type: SiteQuality
SIO_000300: 3.86e-1

MQ
type: SiteQuality
SIO_000300: 6.265e1

GenotypeQuality
all individuals: 3111
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3633
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5927
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 9293
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5445
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8391
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.443613615815067e-5
allele num: 40923
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7429
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4083
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5544
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8862
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 562
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 4.793e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.1e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.78e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.107e1

MQRankSum
type: SiteQuality
SIO_000300: -3.371e0

DP
type: SiteQuality
SIO_000300: 1.399785e6

ClippingRankSum
type: SiteQuality
SIO_000300: 9.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.05e0

GenotypeQuality
all individuals: 693
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4978
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1383
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1508
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2348
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5536
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8865
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4080
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 563
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7424
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.444868221602856e-5
allele num: 40902
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8399
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.12e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.98e-1

DP
type: SiteQuality
SIO_000300: 1.401376e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.07e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.21e0

FS
type: SiteQuality
SIO_000300: 3.174e0

VQSLOD
type: SiteQuality
SIO_000300: -1.015e0

MQ
type: SiteQuality
SIO_000300: 5.421e1

QD
type: SiteQuality
SIO_000300: 1.543e1

GenotypeQuality
all individuals: 6267
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2138
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1105
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2338
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3101
bin: 2.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8408
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 5.384063173007897e-4
allele num: 5572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40985
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8885
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7428
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 565
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4088
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.094e1

MQRankSum
type: SiteQuality
SIO_000300: -5.29e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.84e0

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.18e-1

FS
type: SiteQuality
SIO_000300: 7.792e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e-1

DP
type: SiteQuality
SIO_000300: 1.403566e6

GenotypeQuality
all individuals: 1100
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3687
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1496
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1887
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1371
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 561
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.191327138432213e-4
allele num: 8394
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5548
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40896
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8858
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7420
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4083
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.597e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.25e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

DP
type: SiteQuality
SIO_000300: 1.406345e6

GenotypeQuality
all individuals: 1497
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2196
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1470
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 683
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3084
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 2.25377507324769e-4
allele num: 8874
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7454
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.187930624851509e-4
allele num: 8418
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 564
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.433800623052959e-5
allele num: 41088
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4097
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5574
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.417135e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.6e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.38e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 2.494e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.57e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.8e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.27e0

GenotypeQuality
all individuals: 944
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5924
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1870
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3804
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14965
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5573
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4089
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7444
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 41104
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 565
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.12549240292628e-4
allele num: 8885
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.64e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.19e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.645e0

MQRankSum
type: SiteQuality
SIO_000300: 8.699999999999999e-2

DP
type: SiteQuality
SIO_000300: 1.42905e6

QD
type: SiteQuality
SIO_000300: 1.282e1

GenotypeQuality
all individuals: 1385
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5926
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1887
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 685
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5613
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 568
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7493
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4107
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8896
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8457
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.420838578483587e-5
allele num: 41308
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 9.21e-1

DP
type: SiteQuality
SIO_000300: 1.450895e6

QD
type: SiteQuality
SIO_000300: 3.024e1

GenotypeQuality
all individuals: 179
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variant carriers: 0

GenotypeQuality
all individuals: 436
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1911
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variant carriers: 0

GenotypeQuality
all individuals: 418
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 421
bin: 4.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 574
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7685
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8969
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 2.398656752218757e-4
allele num: 4169
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5797
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8607
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42262
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.493e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.2e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.17e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -8.51e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.036e0

QD
type: SiteQuality
SIO_000300: 1.83e1

DP
type: SiteQuality
SIO_000300: 1.541323e6

GenotypeQuality
all individuals: 351
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1517
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1429
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1098
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 584
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7806
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43078
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4213
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9030
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8730
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.680672268907563e-4
allele num: 5950
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.8e-3

DP
type: SiteQuality
SIO_000300: 1.581724e6

MQ
type: SiteQuality
SIO_000300: 5.911e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -4.71e-2

QD
type: SiteQuality
SIO_000300: 3.323e1

GenotypeQuality
all individuals: 212
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4548
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1523
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 365
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1098
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4291
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7973
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 591
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8936
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9086
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6131
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 2.043271959497809e-4
allele num: 44047
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.077e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.24e0

MQRankSum
type: SiteQuality
SIO_000300: 4.54e-1

FS
type: SiteQuality
SIO_000300: 2.62e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.851e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

DP
type: SiteQuality
SIO_000300: 1.627767e6

QD
type: SiteQuality
SIO_000300: 1.229e1

GenotypeQuality
all individuals: 1098
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33003
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 235
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variant carriers: 0

GenotypeQuality
all individuals: 1930
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 592
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6131
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.270302177219788e-5
allele num: 44047
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9086
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 591
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7973
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4291
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8936
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.229e1

MQRankSum
type: SiteQuality
SIO_000300: 4.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.89e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

FS
type: SiteQuality
SIO_000300: 2.62e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.851e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.077e0

VQSLOD
type: SiteQuality
SIO_000300: 1.24e0

DP
type: SiteQuality
SIO_000300: 1.627767e6

GenotypeQuality
all individuals: 4616
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1464
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5927
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 34065
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.256725040621051e-5
allele num: 44312
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4311
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 592
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6188
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8029
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9111
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9007
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.27e-1

QD
type: SiteQuality
SIO_000300: 1.03e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 5.4e-1

FS
type: SiteQuality
SIO_000300: 3.105e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.13e0

MQ
type: SiteQuality
SIO_000300: 5.98e1

DP
type: SiteQuality
SIO_000300: 1.638619e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.26e0

VQSLOD
type: SiteQuality
SIO_000300: 3.92e-1

GenotypeQuality
all individuals: 49
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4670
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 1535
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 688
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9042
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6218
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44499
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 593
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4332
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.483546504408295e-4
allele num: 8053
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9125
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.643965e6

FS
type: SiteQuality
SIO_000300: 5.675e0

MQRankSum
type: SiteQuality
SIO_000300: 5.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.8e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.4e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.17e-1

QD
type: SiteQuality
SIO_000300: 1.879e1

GenotypeQuality
all individuals: 124
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 259
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 461
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variant carriers: 0

GenotypeQuality
all individuals: 37498
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variant carriers: 0

GenotypeQuality
all individuals: 1535
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1497
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9431
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.084598698481562e-4
allele num: 9220
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4421
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.630203291384318e-4
allele num: 8264
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45784
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6411
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 611
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.11e0

FS
type: SiteQuality
SIO_000300: 3.277e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e0

QD
type: SiteQuality
SIO_000300: 2.097e1

DP
type: SiteQuality
SIO_000300: 1.693899e6

MQ
type: SiteQuality
SIO_000300: 5.917e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.919e0

MQRankSum
type: SiteQuality
SIO_000300: 6.860000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.000000000000001e-2

GenotypeQuality
all individuals: 40453
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5133
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 690
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1551
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variant carriers: 0

GenotypeQuality
all individuals: 1107
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9875
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8439
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4489
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.252876007400004e-5
allele num: 47027
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9283
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6557
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 628
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.91e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -3.4e-3

QD
type: SiteQuality
SIO_000300: 1.064e1

FS
type: SiteQuality
SIO_000300: 4.584e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.18e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.64e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.67e-1

DP
type: SiteQuality
SIO_000300: 1.738574e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.16e-1

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2029
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40818
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
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variant carriers: 0

GenotypeQuality
all individuals: 690
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variant carriers: 0

GenotypeQuality
all individuals: 1107
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9292
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9921
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.52114390021296e-4
allele num: 6574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47172
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4499
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8449
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 627
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.147e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.182e0

DP
type: SiteQuality
SIO_000300: 1.742942e6

MQ
type: SiteQuality
SIO_000300: 5.89e1

VQSLOD
type: SiteQuality
SIO_000300: 8.77e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.0e-2

QD
type: SiteQuality
SIO_000300: 1.269e1

GenotypeQuality
all individuals: 77
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5933
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 37195
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 335
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1967
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 9
allele frequency: 9.723422644770959e-4
allele num: 9256
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9763
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4456
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8396
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 619
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.138214163530619e-5
allele num: 46768
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6538
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.1e0

MQRankSum
type: SiteQuality
SIO_000300: -5.85e-1

QD
type: SiteQuality
SIO_000300: 1.478e1

VQSLOD
type: SiteQuality
SIO_000300: -4.0e-1

DP
type: SiteQuality
SIO_000300: 1.705989e6

MQ
type: SiteQuality
SIO_000300: 5.921e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.75e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.0e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.81e-1

GenotypeQuality
all individuals: 82
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1097
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6868
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6485
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4418
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9231
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9657
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 609
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8335
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.15898786648819e-5
allele num: 46318
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.692e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e0

MQRankSum
type: SiteQuality
SIO_000300: 3.99e-1

QD
type: SiteQuality
SIO_000300: 1.31e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.344e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.14e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.800000000000001e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.673131e6

VQSLOD
type: SiteQuality
SIO_000300: 8.64e-1

GenotypeQuality
all individuals: 149
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7320
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1476
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5928
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1923
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4403
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46213
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8320
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 4.335103500596077e-4
allele num: 9227
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9633
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.0e-1

QD
type: SiteQuality
SIO_000300: 1.349e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.666764e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.457e0

VQSLOD
type: SiteQuality
SIO_000300: 2.15e0

MQRankSum
type: SiteQuality
SIO_000300: 6.21e-1

FS
type: SiteQuality
SIO_000300: 6.4e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.44e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1465
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1917
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.340654570709263e-5
allele num: 46076
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 2.275312855517634e-4
allele num: 4395
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9213
num of homozygotes: 0

African
type: Population
allele count: 16
allele frequency: 1.930967897658702e-3
allele num: 8286
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9610
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6444
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.1e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.99e-2

MQ
type: SiteQuality
SIO_000300: 5.965e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.66e0

DP
type: SiteQuality
SIO_000300: 1.658891e6

MQRankSum
type: SiteQuality
SIO_000300: -9.5e-2

QD
type: SiteQuality
SIO_000300: 1.7e1

GenotypeQuality
all individuals: 1450
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1096
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 30566
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5931
bin: 9.75e1
variant carriers: 12

GenotypeQuality
all individuals: 4631
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 7
allele frequency: 1.090342679127726e-3
allele num: 6420
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9206
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9560
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4373
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 607
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8250
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.527283834791526e-4
allele num: 45833
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.640265e6

FS
type: SiteQuality
SIO_000300: 2.618e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.0e-3

MQ
type: SiteQuality
SIO_000300: 5.956e1

VQSLOD
type: SiteQuality
SIO_000300: 2.8e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.06e0

MQRankSum
type: SiteQuality
SIO_000300: 4.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.52e-2

QD
type: SiteQuality
SIO_000300: 1.526e1

GenotypeQuality
all individuals: 106
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1096
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8971
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5931
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4631
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9560
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 607
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6420
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45833
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8250
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4373
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.172496198131653e-4
allele num: 9206
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.526e1

MQ
type: SiteQuality
SIO_000300: 5.956e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.06e0

MQRankSum
type: SiteQuality
SIO_000300: 4.2e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.8e0

FS
type: SiteQuality
SIO_000300: 2.618e0

DP
type: SiteQuality
SIO_000300: 1.640265e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.52e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -8.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.48e-1

GenotypeQuality
all individuals: 2706
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13071
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1093
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 679
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1357
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9264
num of homozygotes: 0

Latino
type: Population
allele count: 13
allele frequency: 1.421231004700995e-3
allele num: 9147
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7906
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6160
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44462
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4279
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 601
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.9e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.65e-1

FS
type: SiteQuality
SIO_000300: 8.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.924e0

MQRankSum
type: SiteQuality
SIO_000300: 3.79e-1

QD
type: SiteQuality
SIO_000300: 1.385e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.83e-1

MQ
type: SiteQuality
SIO_000300: 5.942e1

DP
type: SiteQuality
SIO_000300: 1.523673e6

GenotypeQuality
all individuals: 1856
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 680
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1334
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5922
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 3689
bin: 6.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5989
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7719
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 5.480052608505041e-4
allele num: 9124
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 601
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43624
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9113
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.229e0

MQRankSum
type: SiteQuality
SIO_000300: 6.15e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -3.616e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

QD
type: SiteQuality
SIO_000300: 1.829e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e0

DP
type: SiteQuality
SIO_000300: 1.477737e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.686e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 14030
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4738
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5920
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 372
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1300
bin: 7.25e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8935
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42787
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 4.001066951186983e-4
allele num: 7498
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9086
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4152
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 597
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.885e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

MQ
type: SiteQuality
SIO_000300: 5.922e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.84e0

VQSLOD
type: SiteQuality
SIO_000300: -6.874e-1

DP
type: SiteQuality
SIO_000300: 1.447318e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.46e-1

GenotypeQuality
all individuals: 526
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19990
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2039
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 1.332871271292618e-4
allele num: 37513
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7424
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7264
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3263
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5471
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7697
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 504
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.16e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.2e-2

FS
type: SiteQuality
SIO_000300: 1.029e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.84e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.61e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.63e-1

QD
type: SiteQuality
SIO_000300: 1.634e1

DP
type: SiteQuality
SIO_000300: 1.493246e6

GenotypeQuality
all individuals: 8048
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 533
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 578
bin: 5.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 506
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3272
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.295504599041327e-4
allele num: 7719
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 37679
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7438
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7271
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5503
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 7.37e0

FS
type: SiteQuality
SIO_000300: 7.546e0

VQSLOD
type: SiteQuality
SIO_000300: -9.196e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e0

MQRankSum
type: SiteQuality
SIO_000300: 8.5e-1

DP
type: SiteQuality
SIO_000300: 1.515085e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.42e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.102e0

GenotypeQuality
all individuals: 287
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 680
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1906
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38084
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3311
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7347
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5578
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 510
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7824
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.331026221216558e-4
allele num: 7513
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 2.293e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

DP
type: SiteQuality
SIO_000300: 1.545337e6

VQSLOD
type: SiteQuality
SIO_000300: -1.712e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 525
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 266
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1801
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7666
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7429
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7244
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5496
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 503
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 5.352745958676801e-5
allele num: 37364
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3238
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.01e-1

DP
type: SiteQuality
SIO_000300: 1.534757e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.63e0

QD
type: SiteQuality
SIO_000300: 1.474e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.06e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 8.092000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

GenotypeQuality
all individuals: 264
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 656
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 2.76625172890733e-4
allele num: 7230
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7651
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3230
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5468
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 37235
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7406
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.561e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.039e0

MQRankSum
type: SiteQuality
SIO_000300: 9.71e-1

FS
type: SiteQuality
SIO_000300: 8.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.8e-3

QD
type: SiteQuality
SIO_000300: 1.472e1

VQSLOD
type: SiteQuality
SIO_000300: -9.11e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.6e-1

DP
type: SiteQuality
SIO_000300: 1.532732e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.43e-1

GenotypeQuality
all individuals: 188
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21581
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 470
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3193
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 498
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7525
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.720126213856323e-5
allele num: 36763
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5430
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7164
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7348
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.66e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.73e0

DP
type: SiteQuality
SIO_000300: 1.515484e6

VQSLOD
type: SiteQuality
SIO_000300: -5.745e-1

QD
type: SiteQuality
SIO_000300: 8.81e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.11e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.38e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-3

FS
type: SiteQuality
SIO_000300: 1.957e0

GenotypeQuality
all individuals: 384
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 534
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 610
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 15
allele frequency: 4.128819157720892e-4
allele num: 36330
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 8
allele frequency: 2.542911633820725e-3
allele num: 3146
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7294
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7417
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5369
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 495
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7086
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.26e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.52e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.7e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.51e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.74e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -4.7e-2

DP
type: SiteQuality
SIO_000300: 1.502789e6

FS
type: SiteQuality
SIO_000300: 5.19e-1

QD
type: SiteQuality
SIO_000300: 1.412e1

GenotypeQuality
all individuals: 260
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 468
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 494
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3085
num of homozygotes: 0

African
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allele count: 2
allele frequency: 2.86368843069874e-4
allele num: 6984
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 35762
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7218
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7293
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 484
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5247
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.46e0

QD
type: SiteQuality
SIO_000300: 9.630000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.64e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.102e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.481261e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.51e-1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 468
bin: 9.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5160
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3034
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.398014818957081e-4
allele num: 7153
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7177
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6920
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 470
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 35293
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.24e0

VQSLOD
type: SiteQuality
SIO_000300: 1.81e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.03e-1

FS
type: SiteQuality
SIO_000300: 1.162e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.68e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.881e0

DP
type: SiteQuality
SIO_000300: 1.467103e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7077
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7015
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5076
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6825
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 464
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2976
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.883256927024767e-5
allele num: 34683
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.688e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.9e-3

DP
type: SiteQuality
SIO_000300: 1.445674e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.614e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.02e0

VQSLOD
type: SiteQuality
SIO_000300: 1.32e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.04e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.75e0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 516
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6824
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4930
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 33903
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2885
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.491201908738443e-4
allele num: 6706
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 453
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7008
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.18e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.86e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.07e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.12e0

DP
type: SiteQuality
SIO_000300: 1.414057e6

FS
type: SiteQuality
SIO_000300: 1.555e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-3

QD
type: SiteQuality
SIO_000300: 1.119e1

MQ
type: SiteQuality
SIO_000300: 5.903e1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 424
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variant carriers: 0

GenotypeQuality
all individuals: 13995
bin: 6.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 6700
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 4906
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6976
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2870
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.966214813276778e-5
allele num: 33713
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6784
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 451
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.408424e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.67e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.482e0

QD
type: SiteQuality
SIO_000300: 3.446e1

MQRankSum
type: SiteQuality
SIO_000300: 1.07e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.2e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.9e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e-1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1228
bin: 6.75e1
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GenotypeQuality
all individuals: 417
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.508295625942685e-4
allele num: 6630
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.501726986033939e-4
allele num: 6659
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4820
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2836
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6912
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 2.101849627672352e-4
allele num: 33304
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 445
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.390007e6

FS
type: SiteQuality
SIO_000300: 1.149e0

MQRankSum
type: SiteQuality
SIO_000300: 2.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.900000000000001e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.08e0

QD
type: SiteQuality
SIO_000300: 1.586e1

VQSLOD
type: SiteQuality
SIO_000300: 3.19e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.4e-2

GenotypeQuality
all individuals: 559
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variant carriers: 0

GenotypeQuality
all individuals: 465
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GenotypeQuality
all individuals: 402
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4749
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6848
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6599
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.036744609778318e-5
allele num: 32930
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6577
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2811
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 444
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ReadPosRankSum
type: SiteQuality
SIO_000300: -5.94e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.46e0

MQRankSum
type: SiteQuality
SIO_000300: 1.1e0

FS
type: SiteQuality
SIO_000300: 7.574e0

QD
type: SiteQuality
SIO_000300: 1.238e1

MQ
type: SiteQuality
SIO_000300: 5.655e1

VQSLOD
type: SiteQuality
SIO_000300: -1.615e0

DP
type: SiteQuality
SIO_000300: 1.383662e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.93e0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6198
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6488
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2539
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 418
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5773
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.339678722906856e-5
allele num: 29943
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.2904e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.26e0

MQRankSum
type: SiteQuality
SIO_000300: 1.8e-1

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e0

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.37e-2

DP
type: SiteQuality
SIO_000300: 1.268179e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.97e-1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 416
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.345040976751965e-5
allele num: 29895
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2537
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
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allele num: 4220
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MQRankSum
type: SiteQuality
SIO_000300: 8.93e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.63e-1

DP
type: SiteQuality
SIO_000300: 1.26321e6

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.37e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.783e0

VQSLOD
type: SiteQuality
SIO_000300: 4.35e-1

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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East Asian
type: Population
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 414
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South Asian
type: Population
allele count: 7
allele frequency: 1.091532823951349e-3
allele num: 6413
num of homozygotes: 0

Latino
type: Population
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allele frequency: 0.0e0
allele num: 5606
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MQRankSum
type: SiteQuality
SIO_000300: 3.86e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.27e-1

DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -9.3e-1

FS
type: SiteQuality
SIO_000300: 5.266e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.6e-3

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 2.117e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.6e-2

South Asian
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num of homozygotes: 0

East Asian
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 6006
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
allele num: 400
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 28538
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.975e0

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.56e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.72e-2

QD
type: SiteQuality
SIO_000300: 1.709e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.8e-1

DP
type: SiteQuality
SIO_000300: 1.207158e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

East Asian
type: Population
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allele num: 3901
num of homozygotes: 0

African
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allele frequency: 3.361344537815126e-4
allele num: 5950
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6268
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2387
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 398
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 28161
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.01e-1

FS
type: SiteQuality
SIO_000300: 2.103e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.76e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.34e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.74e-1

QD
type: SiteQuality
SIO_000300: 2.759e1

MQ
type: SiteQuality
SIO_000300: 5.915e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.34e-1

DP
type: SiteQuality
SIO_000300: 1.194422e6

VQSLOD
type: SiteQuality
SIO_000300: 2.42e-1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 27741
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2350
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Other
type: Population
allele count: 0
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allele num: 384
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ClippingRankSum
type: SiteQuality
SIO_000300: 2.71e-1

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.186404e6

QD
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -2.912e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.21e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.82e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.67e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 353
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.954444795950648e-5
allele num: 25288
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.22e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.84e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.26e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.51e-1

DP
type: SiteQuality
SIO_000300: 1.142938e6

MQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

QD
type: SiteQuality
SIO_000300: 1.65e1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3183
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 349
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5375
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MQ
type: SiteQuality
SIO_000300: 5.811e1

MQRankSum
type: SiteQuality
SIO_000300: 9.88e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.138373e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.16e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.22e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.075e0

QD
type: SiteQuality
SIO_000300: 8.32e0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4200
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3015
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 340
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.137812e6

MQRankSum
type: SiteQuality
SIO_000300: 1.37e0

QD
type: SiteQuality
SIO_000300: 1.014e1

VQSLOD
type: SiteQuality
SIO_000300: -2.476e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.02e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.56e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.21e-1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 35
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 74
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.932740626207963e-4
allele num: 5174
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 277
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 475
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2218
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.426e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.37e-1

MQ
type: SiteQuality
SIO_000300: 5.943e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.28e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.116e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.79e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.29e0

DP
type: SiteQuality
SIO_000300: 2.43066e5

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.43e0

GenotypeQuality
all individuals: 179
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2958
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1098
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.457088736704065e-4
allele num: 6863
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 550
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 96
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 140
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2513
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 742
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.75425e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.75e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.33e-2

MQRankSum
type: SiteQuality
SIO_000300: -4.66e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.214e0

VQSLOD
type: SiteQuality
SIO_000300: -2.583e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

QD
type: SiteQuality
SIO_000300: 1.733e1

GenotypeQuality
all individuals: 178
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 602
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 156
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 7.760962359332557e-4
allele num: 2577
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7197
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 103
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 789
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1224
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.669999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.929999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.803e-1

DP
type: SiteQuality
SIO_000300: 3.85576e5

QD
type: SiteQuality
SIO_000300: 1.014e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.03e-2

FS
type: SiteQuality
SIO_000300: 5.669999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.19e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.074e0

GenotypeQuality
all individuals: 81
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 47
bin: 5.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 111
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 729
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 891
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1530
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7860
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 201
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2695
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 2.563e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.49e-2

DP
type: SiteQuality
SIO_000300: 4.12744e5

VQSLOD
type: SiteQuality
SIO_000300: -3.27e-2

GenotypeQuality
all individuals: 23448
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 47
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 778
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2734
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 221
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 916
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 113
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1615
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.232437761893024e-4
allele num: 8114
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.41e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 9.88e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.93e-1

FS
type: SiteQuality
SIO_000300: 2.445e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.78e-1

DP
type: SiteQuality
SIO_000300: 4.20941e5

VQSLOD
type: SiteQuality
SIO_000300: 2.08e0

QD
type: SiteQuality
SIO_000300: 1.297e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.0e-1

GenotypeQuality
all individuals: 1208
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8795
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 926
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1813
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 126
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2859
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1003
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 295
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.72e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 5.72e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.589e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.99e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.59e0

QD
type: SiteQuality
SIO_000300: 1.519e1

DP
type: SiteQuality
SIO_000300: 4.41495e5

GenotypeQuality
all individuals: 56
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1294
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 9.816432708353784e-5
allele num: 10187
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1279
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 140
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 402
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2266
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3118
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.439e0

MQRankSum
type: SiteQuality
SIO_000300: 6.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.0e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.31e-2

FS
type: SiteQuality
SIO_000300: 4.611e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.83e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.533e0

QD
type: SiteQuality
SIO_000300: 5.76e0

DP
type: SiteQuality
SIO_000300: 4.8666e5

GenotypeQuality
all individuals: 246
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 273
bin: 5.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 253
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.697356426618049e-5
allele num: 17552
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3968
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2468
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4155
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1026
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3213
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 6.57137e5

BaseQRankSum
type: SiteQuality
SIO_000300: -5.73e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

QD
type: SiteQuality
SIO_000300: 2.9e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.274e0

FS
type: SiteQuality
SIO_000300: 7.365e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.89e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.11e-1

GenotypeQuality
all individuals: 124
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 716
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1843
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 8.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1089
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 18264
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4116
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3393
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 1.154290111581377e-3
allele num: 2599
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 258
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4271
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.25e-1

FS
type: SiteQuality
SIO_000300: 1.942e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.78e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.96e-1

DP
type: SiteQuality
SIO_000300: 6.71775e5

VQSLOD
type: SiteQuality
SIO_000300: 8.51e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.48e-1

QD
type: SiteQuality
SIO_000300: 1.203e1

GenotypeQuality
all individuals: 1177
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 291
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1450
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 288
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4169
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1308
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4709
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.74811262523147e-5
allele num: 21061
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3104
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4635
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.166e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.25e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.548e0

FS
type: SiteQuality
SIO_000300: 1.1299e1

DP
type: SiteQuality
SIO_000300: 7.17363e5

ClippingRankSum
type: SiteQuality
SIO_000300: -2.96e-1

QD
type: SiteQuality
SIO_000300: 2.959e1

GenotypeQuality
all individuals: 453
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 337
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 391
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5491
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5467
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3891
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.902743628771026e-5
allele num: 25623
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1740
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5610
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 344
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -7.522e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.61e-1

QD
type: SiteQuality
SIO_000300: 8.76e0

MQ
type: SiteQuality
SIO_000300: 5.915e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.67e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.68e-1

DP
type: SiteQuality
SIO_000300: 8.19025e5

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

GenotypeQuality
all individuals: 1425
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27221
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2068
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7182
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6670
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.037851631326326e-5
allele num: 32918
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2570
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 442
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5009
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7146
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.78e1

MQRankSum
type: SiteQuality
SIO_000300: 2.47e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.41e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.68e0

VQSLOD
type: SiteQuality
SIO_000300: -2.504e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.514e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-3

DP
type: SiteQuality
SIO_000300: 9.77408e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.37e-1

GenotypeQuality
all individuals: 251
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2312
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 421
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7743
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 35883
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7070
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.858045336306206e-4
allele num: 5382
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7709
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 480
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2960
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.51e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.42e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.88e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.42e-1

DP
type: SiteQuality
SIO_000300: 1.04859e6

ClippingRankSum
type: SiteQuality
SIO_000300: 7.42e-1

GenotypeQuality
all individuals: 474
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 552
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2357
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31907
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 484
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7802
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.845699520118125e-4
allele num: 5418
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7788
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7124
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3011
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36271
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.702e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.29e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.14e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.69e-1

FS
type: SiteQuality
SIO_000300: 2.582e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.568e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.69e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-3

DP
type: SiteQuality
SIO_000300: 1.0581e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 683
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1143
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35403
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.20598166907863e-4
allele num: 8292
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8214
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 517
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7467
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5763
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 39171
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -5.03e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

DP
type: SiteQuality
SIO_000300: 1.129941e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.621e0

MQ
type: SiteQuality
SIO_000300: 5.922e1

VQSLOD
type: SiteQuality
SIO_000300: 1.6e-2

GenotypeQuality
all individuals: 670
bin: 7.25e1
variant carriers: 3

GenotypeQuality
all individuals: 34948
bin: 6.25e1
variant carriers: 3

GenotypeQuality
all individuals: 96
bin: 9.25e1
variant carriers: 1

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5788
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 69
allele frequency: 1.753627976719953e-3
allele num: 39347
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.668089647812167e-4
allele num: 7496
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 2.957704821058858e-4
allele num: 3381
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 6.072382803011902e-4
allele num: 8234
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 3.861003861003861e-3
allele num: 518
num of homozygotes: 0

South Asian
type: Population
allele count: 12
allele frequency: 1.441614608361365e-3
allele num: 8324
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.518e-1

DP
type: SiteQuality
SIO_000300: 1.136252e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.49e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.58e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.934e1

VQSLOD
type: SiteQuality
SIO_000300: 9.67e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.75e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.63e-1