3-447157-T-TTTTGTTTG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 447157
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 447165
    reference: chr 3
allele count: 1
allele frequency: 8.668966832532898e-6
allele num: 115354
alternate allele: TTTTGTTTG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000380628
  ensembl transcript: ENST00000397491
  gene symbol: CHL1
  hgvsc: ENST00000397491.2:c.3411-13_3411-6dupGTTTGTTT
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000395239
  ensembl transcript: ENST00000445697
  gene symbol: CHL1
  hgvsc: ENST00000445697.1:c.860-13_860-6dupGTTTGTTT
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000256509
  ensembl transcript: ENST00000256509
  gene symbol: CHL1
  hgvsc: ENST00000256509.2:c.3459-13_3459-6dupGTTTGTTT
  variant of: http://identifiers.org/hgnc/1939
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3655
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13467
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35803
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2722
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1822
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 819
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 701
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1239
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 678
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1163
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2864
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44090
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1668
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

3-447157-TTTTG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 447157
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 447153
    reference: chr 3
allele count: 1
allele frequency: 8.668966832532898e-6
allele num: 115354
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000380628
  ensembl transcript: ENST00000397491
  gene symbol: CHL1
  hgvsc: ENST00000397491.2:c.3411-9_3411-6delGTTT
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000395239
  ensembl transcript: ENST00000445697
  gene symbol: CHL1
  hgvsc: ENST00000445697.1:c.860-9_860-6delGTTT
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000256509
  ensembl transcript: ENST00000256509
  gene symbol: CHL1
  hgvsc: ENST00000256509.2:c.3459-9_3459-6delGTTT
  variant of: http://identifiers.org/hgnc/1939
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3655
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2722
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13467
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1822
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 819
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 701
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1668
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4705
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2864
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 678
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44090
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1239
  bin: 7.75e1
  variant carriers: 0
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: TTTTG
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: QD

3-447159-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 447159
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 447159
    reference: chr 3
allele count: 1
allele frequency: 8.625150940141453e-6
allele num: 115940
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000380628
  ensembl transcript: ENST00000397491
  gene symbol: CHL1
  hgvsc: ENST00000397491.2:c.3411-19T>C
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000256509
  ensembl transcript: ENST00000256509
  gene symbol: CHL1
  hgvsc: ENST00000256509.2:c.3459-19T>C
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000395239
  ensembl transcript: ENST00000445697
  gene symbol: CHL1
  hgvsc: ENST00000445697.1:c.860-19T>C
  variant of: http://identifiers.org/hgnc/1939
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  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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genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13670
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1568
  bin: 1.25e1
  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: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  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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  bin: 7.75e1
  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
  all individuals: 74
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 700
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

3-447160-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 447160
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 447160
    reference: chr 3
allele count: 2
allele frequency: 1.721288901129166e-5
allele num: 116192
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000256509
  ensembl transcript: ENST00000256509
  gene symbol: CHL1
  hgvsc: ENST00000256509.2:c.3459-18T>A
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000395239
  ensembl transcript: ENST00000445697
  gene symbol: CHL1
  hgvsc: ENST00000445697.1:c.860-18T>A
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000380628
  ensembl transcript: ENST00000397491
  gene symbol: CHL1
  hgvsc: ENST00000397491.2:c.3411-18T>A
  variant of: http://identifiers.org/hgnc/1939
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 4788
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  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

3-447161-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 447161
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 447161
    reference: chr 3
allele count: 2
allele frequency: 1.716738197424893e-5
allele num: 116500
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000380628
  ensembl transcript: ENST00000397491
  gene symbol: CHL1
  hgvsc: ENST00000397491.2:c.3411-17G>A
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000256509
  ensembl transcript: ENST00000256509
  gene symbol: CHL1
  hgvsc: ENST00000256509.2:c.3459-17G>A
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000395239
  ensembl transcript: ENST00000445697
  gene symbol: CHL1
  hgvsc: ENST00000445697.1:c.860-17G>A
  variant of: http://identifiers.org/hgnc/1939
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2234
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
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genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 1.25e1
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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
  all individuals: 1665
  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45567
  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 323
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 130
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4777
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

3-447161-GT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 447161
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 447160
    reference: chr 3
allele count: 2
allele frequency: 1.716738197424893e-5
allele num: 116500
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000395239
  ensembl transcript: ENST00000445697
  gene symbol: CHL1
  hgvsc: ENST00000445697.1:c.860-14delT
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000256509
  ensembl transcript: ENST00000256509
  gene symbol: CHL1
  hgvsc: ENST00000256509.2:c.3459-14delT
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000380628
  ensembl transcript: ENST00000397491
  gene symbol: CHL1
  hgvsc: ENST00000397491.2:c.3411-14delT
  variant of: http://identifiers.org/hgnc/1939
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 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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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 13830
  bin: 2.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 3677
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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
  all individuals: 700
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 45567
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genotype quality: GenotypeQuality
  all individuals: 1163
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: GT
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

3-447162-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 447162
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 447162
    reference: chr 3
allele count: 1
allele frequency: 8.560617734175697e-6
allele num: 116814
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000395239
  ensembl transcript: ENST00000445697
  gene symbol: CHL1
  hgvsc: ENST00000445697.1:c.860-16T>A
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000256509
  ensembl transcript: ENST00000256509
  gene symbol: CHL1
  hgvsc: ENST00000256509.2:c.3459-16T>A
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000380628
  ensembl transcript: ENST00000397491
  gene symbol: CHL1
  hgvsc: ENST00000397491.2:c.3411-16T>A
  variant of: http://identifiers.org/hgnc/1939
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
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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 depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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
  all individuals: 322
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  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

3-447163-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 447163
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 447163
    reference: chr 3
allele count: 1
allele frequency: 8.539855505644844e-6
allele num: 117098
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000380628
  ensembl transcript: ENST00000397491
  gene symbol: CHL1
  hgvsc: ENST00000397491.2:c.3411-15T>G
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000395239
  ensembl transcript: ENST00000445697
  gene symbol: CHL1
  hgvsc: ENST00000445697.1:c.860-15T>G
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000256509
  ensembl transcript: ENST00000256509
  gene symbol: CHL1
  hgvsc: ENST00000256509.2:c.3459-15T>G
  variant of: http://identifiers.org/hgnc/1939
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37070
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype 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: 330
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  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD

3-447165-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 447165
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 447165
    reference: chr 3
allele count: 1
allele frequency: 8.49733183780293e-6
allele num: 117684
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000256509
  ensembl transcript: ENST00000256509
  gene symbol: CHL1
  hgvsc: ENST00000256509.2:c.3459-13G>T
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000395239
  ensembl transcript: ENST00000445697
  gene symbol: CHL1
  hgvsc: ENST00000445697.1:c.860-13G>T
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000380628
  ensembl transcript: ENST00000397491
  gene symbol: CHL1
  hgvsc: ENST00000397491.2:c.3411-13G>T
  variant of: http://identifiers.org/hgnc/1939
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14182
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
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genotype depth: GenotypeDepth
  all individuals: 1724
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  variant carriers: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  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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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4888
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1796
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 704
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1242
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46962
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1664
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

3-447174-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 447174
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 447174
    reference: chr 3
allele count: 7
allele frequency: 5.8688398142093e-5
allele num: 119274
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000380628
  ensembl transcript: ENST00000397491
  gene symbol: CHL1
  hgvsc: ENST00000397491.2:c.3411-4C>T
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000395239
  ensembl transcript: ENST00000445697
  gene symbol: CHL1
  hgvsc: ENST00000445697.1:c.860-4C>T
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000256509
  ensembl transcript: ENST00000256509
  gene symbol: CHL1
  hgvsc: ENST00000256509.2:c.3459-4C>T
  variant of: http://identifiers.org/hgnc/1939
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 38345
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14521
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  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
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3770
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1265
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
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genotype quality: GenotypeQuality
  all individuals: 48244
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1215
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 4988
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  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: 52
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genotype quality: GenotypeQuality
  all individuals: 326
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genotype quality: GenotypeQuality
  all individuals: 1672
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 188
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 9.25e1
  variant carriers: 0
hgvs: c.3459-4C>T
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

3-447176-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 447176
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 447176
    reference: chr 3
allele count: 6
allele frequency: 5.016722408026756e-5
allele num: 119600
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000256509
  ensembl transcript: ENST00000256509
  gene symbol: CHL1
  hgvsc: ENST00000256509.2:c.3459-2A>T
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000395239
  ensembl transcript: ENST00000445697
  gene symbol: CHL1
  hgvsc: ENST00000445697.1:c.860-2A>T
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000380628
  ensembl transcript: ENST00000397491
  gene symbol: CHL1
  hgvsc: ENST00000397491.2:c.3411-2A>T
  variant of: http://identifiers.org/hgnc/1939
canonical: true
consequence: splice acceptor
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 176
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 3.75e1
  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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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 716
  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 71
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 327
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.25e1
  variant carriers: 1
hgvs: c.3459-2A>T
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/3-447180-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 447180
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 447180
    reference: chr 3
allele count: 1
allele frequency: 8.327088017320342e-6
allele num: 120090
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000380628
  ensembl transcript: ENST00000397491
  gene symbol: CHL1
  hgvsc: ENST00000397491.2:c.3413A>C
  hgvsp: ENSP00000380628.2:p.Asp1138Ala
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000395239
  ensembl transcript: ENST00000445697
  gene symbol: CHL1
  hgvsc: ENST00000445697.1:c.862A>C
  hgvsp: ENSP00000395239.2:p.Asp288Ala
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000256509
  ensembl transcript: ENST00000256509
  gene symbol: CHL1
  hgvsc: ENST00000256509.2:c.3461A>C
  hgvsp: ENSP00000256509.2:p.Asp1154Ala
  variant of: http://identifiers.org/hgnc/1939
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38704
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3784
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 551
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1668
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Asp1154Ala
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum

3-447181-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 447181
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 447181
    reference: chr 3
allele count: 3
allele frequency: 2.496837339370131e-5
allele num: 120152
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000256509
  ensembl transcript: ENST00000256509
  gene symbol: CHL1
  hgvsc: ENST00000256509.2:c.3462C>T
  hgvsp: ENST00000256509.2:c.3462C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000395239
  ensembl transcript: ENST00000445697
  gene symbol: CHL1
  hgvsc: ENST00000445697.1:c.863C>T
  hgvsp: ENST00000445697.1:c.863C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000380628
  ensembl transcript: ENST00000397491
  gene symbol: CHL1
  hgvsc: ENST00000397491.2:c.3414C>T
  hgvsp: ENST00000397491.2:c.3414C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1939
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
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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
  all individuals: 14765
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
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genotype depth: GenotypeDepth
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  variant carriers: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
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  variant carriers: 1
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1287
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48884
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5047
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1670
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1232
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asp1154Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: C
site quality: QD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum

3-447189-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 447189
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 447189
    reference: chr 3
allele count: 1
allele frequency: 8.289811821271656e-6
allele num: 120630
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000380628
  ensembl transcript: ENST00000397491
  gene symbol: CHL1
  hgvsc: ENST00000397491.2:c.3422A>G
  hgvsp: ENSP00000380628.2:p.Glu1141Gly
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000256509
  ensembl transcript: ENST00000256509
  gene symbol: CHL1
  hgvsc: ENST00000256509.2:c.3470A>G
  hgvsp: ENSP00000256509.2:p.Glu1157Gly
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000395239
  ensembl transcript: ENST00000445697
  gene symbol: CHL1
  hgvsc: ENST00000445697.1:c.871A>G
  hgvsp: ENSP00000395239.2:p.Glu291Gly
  variant of: http://identifiers.org/hgnc/1939
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38819
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14941
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3838
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1292
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5088
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 722
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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: 57
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1671
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49229
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1251
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Glu1157Gly
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

3-447195-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 447195
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 447195
    reference: chr 3
allele count: 10
allele frequency: 8.278008642241022e-5
allele num: 120802
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000395239
  ensembl transcript: ENST00000445697
  gene symbol: CHL1
  hgvsc: ENST00000445697.1:c.877C>T
  hgvsp: ENSP00000395239.2:p.Pro293Leu
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000380628
  ensembl transcript: ENST00000397491
  gene symbol: CHL1
  hgvsc: ENST00000397491.2:c.3428C>T
  hgvsp: ENSP00000380628.2:p.Pro1143Leu
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000256509
  ensembl transcript: ENST00000256509
  gene symbol: CHL1
  hgvsc: ENST00000256509.2:c.3476C>T
  hgvsp: ENSP00000256509.2:p.Pro1159Leu
  variant of: http://identifiers.org/hgnc/1939
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38833
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15018
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3857
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1295
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 6.25e1
  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: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 5115
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 310
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
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genotype quality: GenotypeQuality
  all individuals: 1249
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 719
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 328
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1679
  bin: 9.75e1
  variant carriers: 10
hgvs: p.Pro1159Leu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

http://identifiers.org/exac.variant/3-447197-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 447197
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 447197
    reference: chr 3
allele count: 1
allele frequency: 8.275542461808372e-6
allele num: 120838
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000395239
  ensembl transcript: ENST00000445697
  gene symbol: CHL1
  hgvsc: ENST00000445697.1:c.879C>A
  hgvsp: ENSP00000395239.2:p.Leu294Ile
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000380628
  ensembl transcript: ENST00000397491
  gene symbol: CHL1
  hgvsc: ENST00000397491.2:c.3430C>A
  hgvsp: ENSP00000380628.2:p.Leu1144Ile
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000256509
  ensembl transcript: ENST00000256509
  gene symbol: CHL1
  hgvsc: ENST00000256509.2:c.3478C>A
  hgvsp: ENSP00000256509.2:p.Leu1160Ile
  variant of: http://identifiers.org/hgnc/1939
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3860
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38836
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15035
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
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genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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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  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 417
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1251
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1292
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu1160Ile
num of homozygotes: 0
population: African
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum

3-447203-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 447203
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 447203
    reference: chr 3
allele count: 1
allele frequency: 8.269246671628215e-6
allele num: 120930
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000256509
  ensembl transcript: ENST00000256509
  gene symbol: CHL1
  hgvsc: ENST00000256509.2:c.3484G>A
  hgvsp: ENSP00000256509.2:p.Gly1162Arg
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000380628
  ensembl transcript: ENST00000397491
  gene symbol: CHL1
  hgvsc: ENST00000397491.2:c.3436G>A
  hgvsp: ENSP00000380628.2:p.Gly1146Arg
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000395239
  ensembl transcript: ENST00000445697
  gene symbol: CHL1
  hgvsc: ENST00000445697.1:c.885G>A
  hgvsp: ENSP00000395239.2:p.Gly296Arg
  variant of: http://identifiers.org/hgnc/1939
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3865
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38859
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15088
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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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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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 417
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1256
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 718
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1295
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1672
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5127
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly1162Arg
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/3-447205-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 447205
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 447205
    reference: chr 3
allele count: 1
allele frequency: 8.266512358435975e-6
allele num: 120970
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000380628
  ensembl transcript: ENST00000397491
  gene symbol: CHL1
  hgvsc: ENST00000397491.2:c.3438A>C
  hgvsp: ENST00000397491.2:c.3438A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000256509
  ensembl transcript: ENST00000256509
  gene symbol: CHL1
  hgvsc: ENST00000256509.2:c.3486A>C
  hgvsp: ENST00000256509.2:c.3486A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000395239
  ensembl transcript: ENST00000445697
  gene symbol: CHL1
  hgvsc: ENST00000445697.1:c.887A>C
  hgvsp: ENST00000445697.1:c.887A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1939
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38864
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3875
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15100
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49449
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1300
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5125
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1672
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 230
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1259
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gly1162Gly
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: VQSLOD

3-447206-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 447206
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 447206
    reference: chr 3
allele count: 1
allele frequency: 8.266102367411717e-6
allele num: 120976
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000256509
  ensembl transcript: ENST00000256509
  gene symbol: CHL1
  hgvsc: ENST00000256509.2:c.3487A>T
  hgvsp: ENSP00000256509.2:p.Ser1163Cys
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000380628
  ensembl transcript: ENST00000397491
  gene symbol: CHL1
  hgvsc: ENST00000397491.2:c.3439A>T
  hgvsp: ENSP00000380628.2:p.Ser1147Cys
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000395239
  ensembl transcript: ENST00000445697
  gene symbol: CHL1
  hgvsc: ENST00000445697.1:c.888A>T
  hgvsp: ENSP00000395239.2:p.Ser297Cys
  variant of: http://identifiers.org/hgnc/1939
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3870
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15104
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38871
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1672
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5129
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1260
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1300
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49459
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 718
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser1163Cys
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum

3-447212-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 447212
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 447212
    reference: chr 3
allele count: 1
allele frequency: 8.263779852904718e-6
allele num: 121010
alternate allele: T
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000256509
  ensembl transcript: ENST00000256509
  gene symbol: CHL1
  hgvsc: ENST00000256509.2:c.3493C>T
  hgvsp: ENSP00000256509.2:p.Arg1165Trp
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000395239
  ensembl transcript: ENST00000445697
  gene symbol: CHL1
  hgvsc: ENST00000445697.1:c.894C>T
  hgvsp: ENSP00000395239.2:p.Arg299Trp
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000380628
  ensembl transcript: ENST00000397491
  gene symbol: CHL1
  hgvsc: ENST00000397491.2:c.3445C>T
  hgvsp: ENSP00000380628.2:p.Arg1149Trp
  variant of: http://identifiers.org/hgnc/1939
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15135
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38853
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3888
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1302
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1262
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5138
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49458
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg1165Trp
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

3-447213-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 447213
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 447213
    reference: chr 3
allele count: 1
allele frequency: 8.261731658955718e-6
allele num: 121040
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000395239
  ensembl transcript: ENST00000445697
  gene symbol: CHL1
  hgvsc: ENST00000445697.1:c.895G>A
  hgvsp: ENSP00000395239.2:p.Arg299Gln
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000380628
  ensembl transcript: ENST00000397491
  gene symbol: CHL1
  hgvsc: ENST00000397491.2:c.3446G>A
  hgvsp: ENSP00000380628.2:p.Arg1149Gln
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000256509
  ensembl transcript: ENST00000256509
  gene symbol: CHL1
  hgvsc: ENST00000256509.2:c.3494G>A
  hgvsp: ENSP00000256509.2:p.Arg1165Gln
  variant of: http://identifiers.org/hgnc/1939
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38853
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15140
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3892
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1262
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1300
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5145
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49469
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1674
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg1165Gln
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum

3-447213-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 447213
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 447213
    reference: chr 3
allele count: 1
allele frequency: 8.261731658955718e-6
allele num: 121040
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000256509
  ensembl transcript: ENST00000256509
  gene symbol: CHL1
  hgvsc: ENST00000256509.2:c.3494G>C
  hgvsp: ENSP00000256509.2:p.Arg1165Pro
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000395239
  ensembl transcript: ENST00000445697
  gene symbol: CHL1
  hgvsc: ENST00000445697.1:c.895G>C
  hgvsp: ENSP00000395239.2:p.Arg299Pro
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000380628
  ensembl transcript: ENST00000397491
  gene symbol: CHL1
  hgvsc: ENST00000397491.2:c.3446G>C
  hgvsp: ENSP00000380628.2:p.Arg1149Pro
  variant of: http://identifiers.org/hgnc/1939
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38853
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15140
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3892
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1300
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49469
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5145
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1674
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1262
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg1165Pro
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

3-447214-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 447214
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 447214
    reference: chr 3
allele count: 2
allele frequency: 1.651773178507128e-5
allele num: 121082
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000380628
  ensembl transcript: ENST00000397491
  gene symbol: CHL1
  hgvsc: ENST00000397491.2:c.3447G>C
  hgvsp: ENST00000397491.2:c.3447G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000256509
  ensembl transcript: ENST00000256509
  gene symbol: CHL1
  hgvsc: ENST00000256509.2:c.3495G>C
  hgvsp: ENST00000256509.2:c.3495G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000395239
  ensembl transcript: ENST00000445697
  gene symbol: CHL1
  hgvsc: ENST00000445697.1:c.896G>C
  hgvsp: ENST00000445697.1:c.896G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1939
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15148
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38867
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3893
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1268
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 719
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5152
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49494
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1301
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg1165Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: Other
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

http://identifiers.org/exac.variant/3-447222-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 447222
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 447222
    reference: chr 3
allele count: 2
allele frequency: 1.651473114017704e-5
allele num: 121104
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000256509
  ensembl transcript: ENST00000256509
  gene symbol: CHL1
  hgvsc: ENST00000256509.2:c.3503A>C
  hgvsp: ENSP00000256509.2:p.Asn1168Thr
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000395239
  ensembl transcript: ENST00000445697
  gene symbol: CHL1
  hgvsc: ENST00000445697.1:c.904A>C
  hgvsp: ENSP00000395239.2:p.Asn302Thr
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000380628
  ensembl transcript: ENST00000397491
  gene symbol: CHL1
  hgvsc: ENST00000397491.2:c.3455A>C
  hgvsp: ENSP00000380628.2:p.Asn1152Thr
  variant of: http://identifiers.org/hgnc/1939
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3904
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15175
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38856
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1271
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1300
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 718
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49527
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5152
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1678
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Asn1168Thr
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

3-447222-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 447222
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 447222
    reference: chr 3
allele count: 4
allele frequency: 3.302946228035408e-5
allele num: 121104
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000380628
  ensembl transcript: ENST00000397491
  gene symbol: CHL1
  hgvsc: ENST00000397491.2:c.3455A>G
  hgvsp: ENSP00000380628.2:p.Asn1152Ser
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000395239
  ensembl transcript: ENST00000445697
  gene symbol: CHL1
  hgvsc: ENST00000445697.1:c.904A>G
  hgvsp: ENSP00000395239.2:p.Asn302Ser
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000256509
  ensembl transcript: ENST00000256509
  gene symbol: CHL1
  hgvsc: ENST00000256509.2:c.3503A>G
  hgvsp: ENSP00000256509.2:p.Asn1168Ser
  variant of: http://identifiers.org/hgnc/1939
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38856
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15175
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3904
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1271
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1678
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 49527
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1300
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5152
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 718
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asn1168Ser
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

3-447225-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 447225
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 447225
    reference: chr 3
allele count: 3
allele frequency: 2.476759737793703e-5
allele num: 121126
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000395239
  ensembl transcript: ENST00000445697
  gene symbol: CHL1
  hgvsc: ENST00000445697.1:c.907G>A
  hgvsp: ENSP00000395239.2:p.Arg303Lys
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000256509
  ensembl transcript: ENST00000256509
  gene symbol: CHL1
  hgvsc: ENST00000256509.2:c.3506G>A
  hgvsp: ENSP00000256509.2:p.Arg1169Lys
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000380628
  ensembl transcript: ENST00000397491
  gene symbol: CHL1
  hgvsc: ENST00000397491.2:c.3458G>A
  hgvsp: ENSP00000380628.2:p.Arg1153Lys
  variant of: http://identifiers.org/hgnc/1939
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15189
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3903
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38842
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49516
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5149
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1298
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1675
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1269
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 719
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg1169Lys
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

3-447232-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 447232
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 447232
    reference: chr 3
allele count: 1
allele frequency: 8.255320554097116e-6
allele num: 121134
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000380628
  ensembl transcript: ENST00000397491
  gene symbol: CHL1
  hgvsc: ENST00000397491.2:c.3465G>A
  hgvsp: ENSP00000380628.2:p.Met1155Ile
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000256509
  ensembl transcript: ENST00000256509
  gene symbol: CHL1
  hgvsc: ENST00000256509.2:c.3513G>A
  hgvsp: ENSP00000256509.2:p.Met1171Ile
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000395239
  ensembl transcript: ENST00000445697
  gene symbol: CHL1
  hgvsc: ENST00000445697.1:c.914G>A
  hgvsp: ENSP00000395239.2:p.Met305Ile
  variant of: http://identifiers.org/hgnc/1939
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3908
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38834
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15201
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49523
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1673
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 719
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1302
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1266
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5155
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Met1171Ile
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/3-447234-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 447234
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 447234
    reference: chr 3
allele count: 5
allele frequency: 4.127047015319599e-5
allele num: 121152
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000395239
  ensembl transcript: ENST00000445697
  gene symbol: CHL1
  hgvsc: ENST00000445697.1:c.916A>C
  hgvsp: ENSP00000395239.2:p.Gln306Pro
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000256509
  ensembl transcript: ENST00000256509
  gene symbol: CHL1
  hgvsc: ENST00000256509.2:c.3515A>C
  hgvsp: ENSP00000256509.2:p.Gln1172Pro
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000380628
  ensembl transcript: ENST00000397491
  gene symbol: CHL1
  hgvsc: ENST00000397491.2:c.3467A>C
  hgvsp: ENSP00000380628.2:p.Gln1156Pro
  variant of: http://identifiers.org/hgnc/1939
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15218
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3910
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38819
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 719
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1676
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1304
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1269
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49532
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gln1172Pro
num of homozygotes: 1
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD

3-447240-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 447240
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 447240
    reference: chr 3
allele count: 1
allele frequency: 8.253685270473266e-6
allele num: 121158
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000380628
  ensembl transcript: ENST00000397491
  gene symbol: CHL1
  hgvsc: ENST00000397491.2:c.3473C>T
  hgvsp: ENSP00000380628.2:p.Thr1158Ile
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000256509
  ensembl transcript: ENST00000256509
  gene symbol: CHL1
  hgvsc: ENST00000256509.2:c.3521C>T
  hgvsp: ENSP00000256509.2:p.Thr1174Ile
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000395239
  ensembl transcript: ENST00000445697
  gene symbol: CHL1
  hgvsc: ENST00000445697.1:c.922C>T
  hgvsp: ENSP00000395239.2:p.Thr308Ile
  variant of: http://identifiers.org/hgnc/1939
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15238
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38807
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3915
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49528
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1267
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1673
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5159
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 329
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 716
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr1174Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

http://identifiers.org/exac.variant/3-447243-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 447243
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 447243
    reference: chr 3
allele count: 1
allele frequency: 8.251914444151043e-6
allele num: 121184
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000256509
  ensembl transcript: ENST00000256509
  gene symbol: CHL1
  hgvsc: ENST00000256509.2:c.3524A>C
  hgvsp: ENSP00000256509.2:p.Glu1175Ala
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000395239
  ensembl transcript: ENST00000445697
  gene symbol: CHL1
  hgvsc: ENST00000445697.1:c.925A>C
  hgvsp: ENSP00000395239.2:p.Glu309Ala
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000380628
  ensembl transcript: ENST00000397491
  gene symbol: CHL1
  hgvsc: ENST00000397491.2:c.3476A>C
  hgvsp: ENSP00000380628.2:p.Glu1159Ala
  variant of: http://identifiers.org/hgnc/1939
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3917
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15237
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38817
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1267
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1673
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1301
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5158
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49572
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Glu1175Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: East Asian
population: South Asian
population: Latino
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

3-447247-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 447247
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 447247
    reference: chr 3
allele count: 1
allele frequency: 8.252050634582693e-6
allele num: 121182
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000256509
  ensembl transcript: ENST00000256509
  gene symbol: CHL1
  hgvsc: ENST00000256509.2:c.3528T>A
  hgvsp: ENSP00000256509.2:p.Ser1176Arg
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000380628
  ensembl transcript: ENST00000397491
  gene symbol: CHL1
  hgvsc: ENST00000397491.2:c.3480T>A
  hgvsp: ENSP00000380628.2:p.Ser1160Arg
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000395239
  ensembl transcript: ENST00000445697
  gene symbol: CHL1
  hgvsc: ENST00000445697.1:c.929T>A
  hgvsp: ENSP00000395239.2:p.Ser310Arg
  variant of: http://identifiers.org/hgnc/1939
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38802
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3916
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15250
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5160
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1303
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1266
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49553
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 716
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser1176Arg
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

3-447248-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 447248
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 447248
    reference: chr 3
allele count: 5
allele frequency: 4.126025317291347e-5
allele num: 121182
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000380628
  ensembl transcript: ENST00000397491
  gene symbol: CHL1
  hgvsc: ENST00000397491.2:c.3481G>A
  hgvsp: ENSP00000380628.2:p.Ala1161Thr
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000395239
  ensembl transcript: ENST00000445697
  gene symbol: CHL1
  hgvsc: ENST00000445697.1:c.930G>A
  hgvsp: ENSP00000395239.2:p.Ala311Thr
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000256509
  ensembl transcript: ENST00000256509
  gene symbol: CHL1
  hgvsc: ENST00000256509.2:c.3529G>A
  hgvsp: ENSP00000256509.2:p.Ala1177Thr
  variant of: http://identifiers.org/hgnc/1939
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15248
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3917
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38802
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1677
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1263
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5160
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49565
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1300
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala1177Thr
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD

3-447254-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 447254
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 447254
    reference: chr 3
allele count: 1
allele frequency: 8.250688932525866e-6
allele num: 121202
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000380628
  ensembl transcript: ENST00000397491
  gene symbol: CHL1
  hgvsc: ENST00000397491.2:c.3487A>T
  hgvsp: ENSP00000380628.2:p.Ser1163Cys
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000256509
  ensembl transcript: ENST00000256509
  gene symbol: CHL1
  hgvsc: ENST00000256509.2:c.3535A>T
  hgvsp: ENSP00000256509.2:p.Ser1179Cys
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000395239
  ensembl transcript: ENST00000445697
  gene symbol: CHL1
  hgvsc: ENST00000445697.1:c.936A>T
  hgvsp: ENSP00000395239.2:p.Ser313Cys
  variant of: http://identifiers.org/hgnc/1939
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38791
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3917
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15269
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1264
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49565
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1299
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5164
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1673
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ser1179Cys
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: FS
site quality: BaseQRankSum

3-447262-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 447262
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 447262
    reference: chr 3
allele count: 1
allele frequency: 8.251642076773278e-6
allele num: 121188
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000395239
  ensembl transcript: ENST00000445697
  gene symbol: CHL1
  hgvsc: ENST00000445697.1:c.944C>T
  hgvsp: ENST00000445697.1:c.944C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000256509
  ensembl transcript: ENST00000256509
  gene symbol: CHL1
  hgvsc: ENST00000256509.2:c.3543C>T
  hgvsp: ENST00000256509.2:c.3543C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000380628
  ensembl transcript: ENST00000397491
  gene symbol: CHL1
  hgvsc: ENST00000397491.2:c.3495C>T
  hgvsp: ENST00000397491.2:c.3495C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1939
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3927
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15289
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38758
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49554
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1263
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1296
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5164
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1673
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Val1181Val
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

3-447263-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 447263
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 447263
    reference: chr 3
allele count: 7
allele frequency: 5.776054129878703e-5
allele num: 121190
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000380628
  ensembl transcript: ENST00000397491
  gene symbol: CHL1
  hgvsc: ENST00000397491.2:c.3496G>A
  hgvsp: ENSP00000380628.2:p.Glu1166Lys
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000395239
  ensembl transcript: ENST00000445697
  gene symbol: CHL1
  hgvsc: ENST00000445697.1:c.945G>A
  hgvsp: ENSP00000395239.2:p.Glu316Lys
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000256509
  ensembl transcript: ENST00000256509
  gene symbol: CHL1
  hgvsc: ENST00000256509.2:c.3544G>A
  hgvsp: ENSP00000256509.2:p.Glu1182Lys
  variant of: http://identifiers.org/hgnc/1939
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15289
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38751
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3925
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1260
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5162
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49560
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 718
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1678
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 1297
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Glu1182Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

3-447266-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 447266
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 447266
    reference: chr 3
allele count: 1
allele frequency: 8.251233559417133e-6
allele num: 121194
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000380628
  ensembl transcript: ENST00000397491
  gene symbol: CHL1
  hgvsc: ENST00000397491.2:c.3499T>A
  hgvsp: ENSP00000380628.2:p.Tyr1167Asn
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000256509
  ensembl transcript: ENST00000256509
  gene symbol: CHL1
  hgvsc: ENST00000256509.2:c.3547T>A
  hgvsp: ENSP00000256509.2:p.Tyr1183Asn
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000395239
  ensembl transcript: ENST00000445697
  gene symbol: CHL1
  hgvsc: ENST00000445697.1:c.948T>A
  hgvsp: ENSP00000395239.2:p.Tyr317Asn
  variant of: http://identifiers.org/hgnc/1939
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15303
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38752
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3922
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1673
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1301
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5166
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49585
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 718
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Tyr1183Asn
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD

3-447268-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 447268
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 447268
    reference: chr 3
allele count: 6
allele frequency: 4.951066954928787e-5
allele num: 121186
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000395239
  ensembl transcript: ENST00000445697
  gene symbol: CHL1
  hgvsc: ENST00000445697.1:c.950C>T
  hgvsp: ENST00000445697.1:c.950C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000380628
  ensembl transcript: ENST00000397491
  gene symbol: CHL1
  hgvsc: ENST00000397491.2:c.3501C>T
  hgvsp: ENST00000397491.2:c.3501C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000256509
  ensembl transcript: ENST00000256509
  gene symbol: CHL1
  hgvsc: ENST00000256509.2:c.3549C>T
  hgvsp: ENST00000256509.2:c.3549C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1939
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3921
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15303
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38746
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1260
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49567
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  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
  all individuals: 327
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1678
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 716
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 114
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1298
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Tyr1183Tyr
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

3-447269-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 447269
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 447269
    reference: chr 3
allele count: 4
allele frequency: 3.300547890949898e-5
allele num: 121192
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000380628
  ensembl transcript: ENST00000397491
  gene symbol: CHL1
  hgvsc: ENST00000397491.2:c.3502G>A
  hgvsp: ENSP00000380628.2:p.Gly1168Arg
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000395239
  ensembl transcript: ENST00000445697
  gene symbol: CHL1
  hgvsc: ENST00000445697.1:c.951G>A
  hgvsp: ENSP00000395239.2:p.Gly318Arg
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000256509
  ensembl transcript: ENST00000256509
  gene symbol: CHL1
  hgvsc: ENST00000256509.2:c.3550G>A
  hgvsp: ENSP00000256509.2:p.Gly1184Arg
  variant of: http://identifiers.org/hgnc/1939
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15306
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38741
  bin: 2.25e1
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genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3927
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49572
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1297
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 716
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1262
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5170
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly1184Arg
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

3-447274-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 447274
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 447274
    reference: chr 3
allele count: 1
allele frequency: 8.250961236984109e-6
allele num: 121198
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000380628
  ensembl transcript: ENST00000397491
  gene symbol: CHL1
  hgvsc: ENST00000397491.2:c.3507G>C
  hgvsp: ENSP00000380628.2:p.Glu1169Asp
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000395239
  ensembl transcript: ENST00000445697
  gene symbol: CHL1
  hgvsc: ENST00000445697.1:c.956G>C
  hgvsp: ENSP00000395239.2:p.Glu319Asp
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000256509
  ensembl transcript: ENST00000256509
  gene symbol: CHL1
  hgvsc: ENST00000256509.2:c.3555G>C
  hgvsp: ENSP00000256509.2:p.Glu1185Asp
  variant of: http://identifiers.org/hgnc/1939
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3935
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38730
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15325
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1671
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1263
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5175
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1301
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 19
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49566
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Glu1185Asp
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

3-447278-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 447278
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 447278
    reference: chr 3
allele count: 1
allele frequency: 8.250688932525866e-6
allele num: 121202
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000256509
  ensembl transcript: ENST00000256509
  gene symbol: CHL1
  hgvsc: ENST00000256509.2:c.3559G>A
  hgvsp: ENSP00000256509.2:p.Asp1187Asn
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000395239
  ensembl transcript: ENST00000445697
  gene symbol: CHL1
  hgvsc: ENST00000445697.1:c.960G>A
  hgvsp: ENSP00000395239.2:p.Asp321Asn
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000380628
  ensembl transcript: ENST00000397491
  gene symbol: CHL1
  hgvsc: ENST00000397491.2:c.3511G>A
  hgvsp: ENSP00000380628.2:p.Asp1171Asn
  variant of: http://identifiers.org/hgnc/1939
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15338
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38722
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3936
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5178
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  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: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1672
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  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: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1298
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Asp1187Asn
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

3-447278-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 447278
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 447278
    reference: chr 3
allele count: 1
allele frequency: 8.250688932525866e-6
allele num: 121202
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000256509
  ensembl transcript: ENST00000256509
  gene symbol: CHL1
  hgvsc: ENST00000256509.2:c.3559G>T
  hgvsp: ENSP00000256509.2:p.Asp1187Tyr
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000380628
  ensembl transcript: ENST00000397491
  gene symbol: CHL1
  hgvsc: ENST00000397491.2:c.3511G>T
  hgvsp: ENSP00000380628.2:p.Asp1171Tyr
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000395239
  ensembl transcript: ENST00000445697
  gene symbol: CHL1
  hgvsc: ENST00000445697.1:c.960G>T
  hgvsp: ENSP00000395239.2:p.Asp321Tyr
  variant of: http://identifiers.org/hgnc/1939
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3936
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15338
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38722
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 5178
  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
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genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1265
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49585
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asp1187Tyr
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: African
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

3-447280-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 447280
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 447280
    reference: chr 3
allele count: 4
allele frequency: 3.300221114814693e-5
allele num: 121204
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000256509
  ensembl transcript: ENST00000256509
  gene symbol: CHL1
  hgvsc: ENST00000256509.2:c.3561C>T
  hgvsp: ENST00000256509.2:c.3561C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000380628
  ensembl transcript: ENST00000397491
  gene symbol: CHL1
  hgvsc: ENST00000397491.2:c.3513C>T
  hgvsp: ENST00000397491.2:c.3513C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000395239
  ensembl transcript: ENST00000445697
  gene symbol: CHL1
  hgvsc: ENST00000445697.1:c.962C>T
  hgvsp: ENST00000445697.1:c.962C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1939
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15345
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3934
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38717
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1674
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49584
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1266
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1297
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5174
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asp1187Asp
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff

3-447283-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 447283
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 447283
    reference: chr 3
allele count: 59
allele frequency: 4.867745821163969e-4
allele num: 121206
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000380628
  ensembl transcript: ENST00000397491
  gene symbol: CHL1
  hgvsc: ENST00000397491.2:c.3516T>C
  hgvsp: ENST00000397491.2:c.3516T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000395239
  ensembl transcript: ENST00000445697
  gene symbol: CHL1
  hgvsc: ENST00000445697.1:c.965T>C
  hgvsp: ENST00000445697.1:c.965T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000256509
  ensembl transcript: ENST00000256509
  gene symbol: CHL1
  hgvsc: ENST00000256509.2:c.3564T>C
  hgvsp: ENST00000256509.2:c.3564T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1939
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3931
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38677
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 15341
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 49564
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1727
  bin: 9.75e1
  variant carriers: 57
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1262
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1293
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 8.75e1
  variant carriers: 0
hgvs: p.His1188His
num of homozygotes: 2
population: South Asian
population: East Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: VQSLOD

3-447284-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 447284
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 447284
    reference: chr 3
allele count: 1
allele frequency: 8.25000825000825e-6
allele num: 121212
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000256509
  ensembl transcript: ENST00000256509
  gene symbol: CHL1
  hgvsc: ENST00000256509.2:c.3565G>A
  hgvsp: ENSP00000256509.2:p.Gly1189Ser
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000395239
  ensembl transcript: ENST00000445697
  gene symbol: CHL1
  hgvsc: ENST00000445697.1:c.966G>A
  hgvsp: ENSP00000395239.2:p.Gly323Ser
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000380628
  ensembl transcript: ENST00000397491
  gene symbol: CHL1
  hgvsc: ENST00000397491.2:c.3517G>A
  hgvsp: ENSP00000380628.2:p.Gly1173Ser
  variant of: http://identifiers.org/hgnc/1939
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15379
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3941
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38681
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1294
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1672
  bin: 9.75e1
  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: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 716
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49598
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1264
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly1189Ser
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

3-447284-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 447284
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 447284
    reference: chr 3
allele count: 1
allele frequency: 8.25000825000825e-6
allele num: 121212
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000395239
  ensembl transcript: ENST00000445697
  gene symbol: CHL1
  hgvsc: ENST00000445697.1:c.966G>T
  hgvsp: ENSP00000395239.2:p.Gly323Cys
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000256509
  ensembl transcript: ENST00000256509
  gene symbol: CHL1
  hgvsc: ENST00000256509.2:c.3565G>T
  hgvsp: ENSP00000256509.2:p.Gly1189Cys
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000380628
  ensembl transcript: ENST00000397491
  gene symbol: CHL1
  hgvsc: ENST00000397491.2:c.3517G>T
  hgvsp: ENSP00000380628.2:p.Gly1173Cys
  variant of: http://identifiers.org/hgnc/1939
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3941
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38681
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15379
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1294
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49598
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5174
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1672
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 716
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly1189Cys
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: VQSLOD

3-447287-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 447287
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 447287
    reference: chr 3
allele count: 1
allele frequency: 8.250280509537325e-6
allele num: 121208
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000380628
  ensembl transcript: ENST00000397491
  gene symbol: CHL1
  hgvsc: ENST00000397491.2:c.3520C>T
  hgvsp: ENSP00000380628.2:p.Leu1174Phe
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000395239
  ensembl transcript: ENST00000445697
  gene symbol: CHL1
  hgvsc: ENST00000445697.1:c.969C>T
  hgvsp: ENSP00000395239.2:p.Leu324Phe
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000256509
  ensembl transcript: ENST00000256509
  gene symbol: CHL1
  hgvsc: ENST00000256509.2:c.3568C>T
  hgvsp: ENSP00000256509.2:p.Leu1190Phe
  variant of: http://identifiers.org/hgnc/1939
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15383
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38686
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3938
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1294
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49608
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5176
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1671
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1263
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 716
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu1190Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
population: African
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum

3-447289-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 447289
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 447289
    reference: chr 3
allele count: 208
allele frequency: 1.716058345983763e-3
allele num: 121208
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000395239
  ensembl transcript: ENST00000445697
  gene symbol: CHL1
  hgvsc: ENST00000445697.1:c.971C>T
  hgvsp: ENST00000445697.1:c.971C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000256509
  ensembl transcript: ENST00000256509
  gene symbol: CHL1
  hgvsc: ENST00000256509.2:c.3570C>T
  hgvsp: ENST00000256509.2:c.3570C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000380628
  ensembl transcript: ENST00000397491
  gene symbol: CHL1
  hgvsc: ENST00000397491.2:c.3522C>T
  hgvsp: ENST00000397491.2:c.3522C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1939
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 15343
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1014
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genotype depth: GenotypeDepth
  all individuals: 95
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  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3924
  bin: 3.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 5.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 38555
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1864
  bin: 9.75e1
  variant carriers: 207
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 5
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1251
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu1190Leu
num of homozygotes: 1
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum

3-447293-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 447293
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 447293
    reference: chr 3
allele count: 1
allele frequency: 8.249736008447729e-6
allele num: 121216
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000395239
  ensembl transcript: ENST00000445697
  gene symbol: CHL1
  hgvsc: ENST00000445697.1:c.975A>G
  hgvsp: ENSP00000395239.2:p.Ser326Gly
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000380628
  ensembl transcript: ENST00000397491
  gene symbol: CHL1
  hgvsc: ENST00000397491.2:c.3526A>G
  hgvsp: ENSP00000380628.2:p.Ser1176Gly
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000256509
  ensembl transcript: ENST00000256509
  gene symbol: CHL1
  hgvsc: ENST00000256509.2:c.3574A>G
  hgvsp: ENSP00000256509.2:p.Ser1192Gly
  variant of: http://identifiers.org/hgnc/1939
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15451
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38597
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3970
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  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
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 713
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genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1667
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser1192Gly
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

3-447303-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 447303
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 447303
    reference: chr 3
allele count: 1
allele frequency: 8.249463784853985e-6
allele num: 121220
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000395239
  ensembl transcript: ENST00000445697
  gene symbol: CHL1
  hgvsc: ENST00000445697.1:c.985G>A
  hgvsp: ENSP00000395239.2:p.Gly329Glu
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000256509
  ensembl transcript: ENST00000256509
  gene symbol: CHL1
  hgvsc: ENST00000256509.2:c.3584G>A
  hgvsp: ENSP00000256509.2:p.Gly1195Glu
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000380628
  ensembl transcript: ENST00000397491
  gene symbol: CHL1
  hgvsc: ENST00000397491.2:c.3536G>A
  hgvsp: ENSP00000380628.2:p.Gly1179Glu
  variant of: http://identifiers.org/hgnc/1939
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3972
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15455
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38608
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1257
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49681
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 713
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1667
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gly1195Glu
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ

3-447306-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 447306
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 447306
    reference: chr 3
allele count: 1
allele frequency: 8.249463784853985e-6
allele num: 121220
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000256509
  ensembl transcript: ENST00000256509
  gene symbol: CHL1
  hgvsc: ENST00000256509.2:c.3587C>T
  hgvsp: ENSP00000256509.2:p.Ser1196Leu
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000395239
  ensembl transcript: ENST00000445697
  gene symbol: CHL1
  hgvsc: ENST00000445697.1:c.988C>T
  hgvsp: ENSP00000395239.2:p.Ser330Leu
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000380628
  ensembl transcript: ENST00000397491
  gene symbol: CHL1
  hgvsc: ENST00000397491.2:c.3539C>T
  hgvsp: ENSP00000380628.2:p.Ser1180Leu
  variant of: http://identifiers.org/hgnc/1939
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3977
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38597
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1292
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49670
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1667
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1257
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 712
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser1196Leu
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

3-447314-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 447314
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 447314
    reference: chr 3
allele count: 1
allele frequency: 8.249327679794096e-6
allele num: 121222
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000395239
  ensembl transcript: ENST00000445697
  gene symbol: CHL1
  hgvsc: ENST00000445697.1:c.996G>T
  hgvsp: ENSP00000395239.2:p.Gly333Cys
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000380628
  ensembl transcript: ENST00000397491
  gene symbol: CHL1
  hgvsc: ENST00000397491.2:c.3547G>T
  hgvsp: ENSP00000380628.2:p.Gly1183Cys
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000256509
  ensembl transcript: ENST00000256509
  gene symbol: CHL1
  hgvsc: ENST00000256509.2:c.3595G>T
  hgvsp: ENSP00000256509.2:p.Gly1199Cys
  variant of: http://identifiers.org/hgnc/1939
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3980
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15466
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38586
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1290
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1257
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5167
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49674
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 713
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1667
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Gly1199Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: QD

3-447315-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 447315
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 447315
    reference: chr 3
allele count: 1
allele frequency: 8.249327679794096e-6
allele num: 121222
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000256509
  ensembl transcript: ENST00000256509
  gene symbol: CHL1
  hgvsc: ENST00000256509.2:c.3596G>A
  hgvsp: ENSP00000256509.2:p.Gly1199Asp
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000380628
  ensembl transcript: ENST00000397491
  gene symbol: CHL1
  hgvsc: ENST00000397491.2:c.3548G>A
  hgvsp: ENSP00000380628.2:p.Gly1183Asp
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000395239
  ensembl transcript: ENST00000445697
  gene symbol: CHL1
  hgvsc: ENST00000445697.1:c.997G>A
  hgvsp: ENSP00000395239.2:p.Gly333Asp
  variant of: http://identifiers.org/hgnc/1939
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38584
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3976
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15474
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49685
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1667
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5169
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 713
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1288
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1257
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly1199Asp
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum

3-447316-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 447316
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 447316
    reference: chr 3
allele count: 1
allele frequency: 8.248919391559706e-6
allele num: 121228
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000395239
  ensembl transcript: ENST00000445697
  gene symbol: CHL1
  hgvsc: ENST00000445697.1:c.998T>G
  hgvsp: ENST00000445697.1:c.998T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000380628
  ensembl transcript: ENST00000397491
  gene symbol: CHL1
  hgvsc: ENST00000397491.2:c.3549T>G
  hgvsp: ENST00000397491.2:c.3549T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000256509
  ensembl transcript: ENST00000256509
  gene symbol: CHL1
  hgvsc: ENST00000256509.2:c.3597T>G
  hgvsp: ENST00000256509.2:c.3597T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1939
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3975
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15477
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38581
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 713
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1291
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49682
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5171
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1667
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly1199Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

3-447322-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 447322
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 447322
    reference: chr 3
allele count: 9
allele frequency: 7.423904974016333e-5
allele num: 121230
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000395239
  ensembl transcript: ENST00000445697
  gene symbol: CHL1
  hgvsc: ENST00000445697.1:c.1004C>T
  hgvsp: ENST00000445697.1:c.1004C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000380628
  ensembl transcript: ENST00000397491
  gene symbol: CHL1
  hgvsc: ENST00000397491.2:c.3555C>T
  hgvsp: ENST00000397491.2:c.3555C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000256509
  ensembl transcript: ENST00000256509
  gene symbol: CHL1
  hgvsc: ENST00000256509.2:c.3603C>T
  hgvsp: ENST00000256509.2:c.3603C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1939
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3973
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38573
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15490
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5170
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 712
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1257
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49689
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1675
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 1287
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Tyr1201Tyr
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: African
population: East Asian
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ

3-447323-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 447323
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 447323
    reference: chr 3
allele count: 13
allele frequency: 1.072341829580137e-4
allele num: 121230
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000395239
  ensembl transcript: ENST00000445697
  gene symbol: CHL1
  hgvsc: ENST00000445697.1:c.1005G>A
  hgvsp: ENSP00000395239.2:p.Ala336Thr
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000256509
  ensembl transcript: ENST00000256509
  gene symbol: CHL1
  hgvsc: ENST00000256509.2:c.3604G>A
  hgvsp: ENSP00000256509.2:p.Ala1202Thr
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000380628
  ensembl transcript: ENST00000397491
  gene symbol: CHL1
  hgvsc: ENST00000397491.2:c.3556G>A
  hgvsp: ENSP00000380628.2:p.Ala1186Thr
  variant of: http://identifiers.org/hgnc/1939
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38573
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15487
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3972
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1678
  bin: 9.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5169
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1284
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1259
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49688
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala1202Thr
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

3-447330-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 447330
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 447330
    reference: chr 3
allele count: 2
allele frequency: 1.649783878311941e-5
allele num: 121228
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000395239
  ensembl transcript: ENST00000445697
  gene symbol: CHL1
  hgvsc: ENST00000445697.1:c.1012C>G
  hgvsp: ENSP00000395239.2:p.Ser338Cys
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000256509
  ensembl transcript: ENST00000256509
  gene symbol: CHL1
  hgvsc: ENST00000256509.2:c.3611C>G
  hgvsp: ENSP00000256509.2:p.Ser1204Cys
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000380628
  ensembl transcript: ENST00000397491
  gene symbol: CHL1
  hgvsc: ENST00000397491.2:c.3563C>G
  hgvsp: ENSP00000380628.2:p.Ser1188Cys
  variant of: http://identifiers.org/hgnc/1939
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38566
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3971
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15499
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5166
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1667
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1255
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 712
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1286
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49701
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser1204Cys
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff

3-447346-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 447346
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 447346
    reference: chr 3
allele count: 1
allele frequency: 8.250416646040625e-6
allele num: 121206
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000380628
  ensembl transcript: ENST00000397491
  gene symbol: CHL1
  hgvsc: ENST00000397491.2:c.3579T>A
  hgvsp: ENST00000397491.2:c.3579T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000395239
  ensembl transcript: ENST00000445697
  gene symbol: CHL1
  hgvsc: ENST00000445697.1:c.1028T>A
  hgvsp: ENST00000445697.1:c.1028T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000256509
  ensembl transcript: ENST00000256509
  gene symbol: CHL1
  hgvsc: ENST00000256509.2:c.3627T>A
  hgvsp: ENST00000256509.2:c.3627T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1939
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38532
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15496
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3976
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5171
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1288
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 712
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1666
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49674
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1253
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser1209Ser
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: FS

3-447358-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 447358
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 447358
    reference: chr 3
allele count: 1
allele frequency: 8.25300409349003e-6
allele num: 121168
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000256509
  ensembl transcript: ENST00000256509
  gene symbol: CHL1
  hgvsc: ENST00000256509.2:c.3639T>C
  hgvsp: ENST00000256509.2:c.3639T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000380628
  ensembl transcript: ENST00000397491
  gene symbol: CHL1
  hgvsc: ENST00000397491.2:c.3591T>C
  hgvsp: ENST00000397491.2:c.3591T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000395239
  ensembl transcript: ENST00000445697
  gene symbol: CHL1
  hgvsc: ENST00000445697.1:c.1040T>C
  hgvsp: ENST00000445697.1:c.1040T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1939
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3967
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38487
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15503
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1249
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1286
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5165
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49629
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asn1213Asn
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
reference allele: T
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum

3-447367-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 447367
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 447367
    reference: chr 3
allele count: 23
allele frequency: 1.899445031712474e-4
allele num: 121088
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000256509
  ensembl transcript: ENST00000256509
  gene symbol: CHL1
  hgvsc: ENST00000256509.2:c.3648T>G
  hgvsp: ENST00000256509.2:c.3648T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000380628
  ensembl transcript: ENST00000397491
  gene symbol: CHL1
  hgvsc: ENST00000397491.2:c.3600T>G
  hgvsp: ENST00000397491.2:c.3600T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000395239
  ensembl transcript: ENST00000445697
  gene symbol: CHL1
  hgvsc: ENST00000445697.1:c.1049T>G
  hgvsp: ENST00000445697.1:c.1049T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1939
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 15463
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3958
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38424
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 405
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1687
  bin: 9.75e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 708
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1283
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 325
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5157
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1246
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser1216Ser
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/3-447375-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 447375
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 447375
    reference: chr 3
allele count: 1
allele frequency: 8.266375690242371e-6
allele num: 120972
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000380628
  ensembl transcript: ENST00000397491
  gene symbol: CHL1
  hgvsc: ENST00000397491.2:c.3608C>A
  hgvsp: ENSP00000380628.2:p.Thr1203Asn
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000256509
  ensembl transcript: ENST00000256509
  gene symbol: CHL1
  hgvsc: ENST00000256509.2:c.3656C>A
  hgvsp: ENSP00000256509.2:p.Thr1219Asn
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000395239
  ensembl transcript: ENST00000445697
  gene symbol: CHL1
  hgvsc: ENST00000445697.1:c.1057C>A
  hgvsp: ENSP00000395239.2:p.Thr353Asn
  variant of: http://identifiers.org/hgnc/1939
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38288
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15456
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3975
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49375
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5149
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 706
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1666
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1282
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr1219Asn
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD

3-447381-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 447381
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 447381
    reference: chr 3
allele count: 2
allele frequency: 1.655300271469245e-5
allele num: 120824
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000395239
  ensembl transcript: ENST00000445697
  gene symbol: CHL1
  hgvsc: ENST00000445697.1:c.1063C>G
  hgvsp: ENSP00000395239.2:p.Pro355Arg
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000256509
  ensembl transcript: ENST00000256509
  gene symbol: CHL1
  hgvsc: ENST00000256509.2:c.3662C>G
  hgvsp: ENSP00000256509.2:p.Pro1221Arg
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000380628
  ensembl transcript: ENST00000397491
  gene symbol: CHL1
  hgvsc: ENST00000397491.2:c.3614C>G
  hgvsp: ENSP00000380628.2:p.Pro1205Arg
  variant of: http://identifiers.org/hgnc/1939
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3979
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38136
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15415
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1245
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 8.75e1
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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 407
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 413
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1278
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro1221Arg
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: C
site quality: QD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

3-447383-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 447383
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 447383
    reference: chr 3
allele count: 1
allele frequency: 8.280750567231414e-6
allele num: 120762
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000256509
  ensembl transcript: ENST00000256509
  gene symbol: CHL1
  hgvsc: ENST00000256509.2:c.3664C>T
  hgvsp: ENSP00000256509.2:p.Leu1222Phe
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000380628
  ensembl transcript: ENST00000397491
  gene symbol: CHL1
  hgvsc: ENST00000397491.2:c.3616C>T
  hgvsp: ENSP00000380628.2:p.Leu1206Phe
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000395239
  ensembl transcript: ENST00000445697
  gene symbol: CHL1
  hgvsc: ENST00000445697.1:c.1065C>T
  hgvsp: ENSP00000395239.2:p.Leu356Phe
  variant of: http://identifiers.org/hgnc/1939
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3989
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38027
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15432
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1666
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  variant carriers: 1
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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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1239
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5117
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu1222Phe
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

3-447385-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 447385
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 447385
    reference: chr 3
allele count: 1
allele frequency: 8.284180528862085e-6
allele num: 120712
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000256509
  ensembl transcript: ENST00000256509
  gene symbol: CHL1
  hgvsc: ENST00000256509.2:c.3666T>G
  hgvsp: ENST00000256509.2:c.3666T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000395239
  ensembl transcript: ENST00000445697
  gene symbol: CHL1
  hgvsc: ENST00000445697.1:c.1067T>G
  hgvsp: ENST00000445697.1:c.1067T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000380628
  ensembl transcript: ENST00000397491
  gene symbol: CHL1
  hgvsc: ENST00000397491.2:c.3618T>G
  hgvsp: ENST00000397491.2:c.3618T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1939
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15418
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3960
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37980
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 704
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5112
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1270
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1668
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49031
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1238
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu1222Leu
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

3-447387-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 447387
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 447387
    reference: chr 3
allele count: 4
allele frequency: 3.316144650229643e-5
allele num: 120622
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000256509
  ensembl transcript: ENST00000256509
  gene symbol: CHL1
  hgvsc: ENST00000256509.2:c.3668G>A
  hgvsp: ENSP00000256509.2:p.Arg1223Gln
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000380628
  ensembl transcript: ENST00000397491
  gene symbol: CHL1
  hgvsc: ENST00000397491.2:c.3620G>A
  hgvsp: ENSP00000380628.2:p.Arg1207Gln
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000395239
  ensembl transcript: ENST00000445697
  gene symbol: CHL1
  hgvsc: ENST00000445697.1:c.1069G>A
  hgvsp: ENSP00000395239.2:p.Arg357Gln
  variant of: http://identifiers.org/hgnc/1939
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37863
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3968
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15404
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1667
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 701
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1236
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48856
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5087
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg1223Gln
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

3-447391-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 447391
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 447391
    reference: chr 3
allele count: 1
allele frequency: 8.300546175938376e-6
allele num: 120474
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000256509
  ensembl transcript: ENST00000256509
  gene symbol: CHL1
  hgvsc: ENST00000256509.2:c.3672A>G
  hgvsp: ENST00000256509.2:c.3672A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000380628
  ensembl transcript: ENST00000397491
  gene symbol: CHL1
  hgvsc: ENST00000397491.2:c.3624A>G
  hgvsp: ENST00000397491.2:c.3624A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000395239
  ensembl transcript: ENST00000445697
  gene symbol: CHL1
  hgvsc: ENST00000445697.1:c.1073A>G
  hgvsp: ENST00000445697.1:c.1073A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1939
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37610
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15440
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3944
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 744
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48666
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1224
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1251
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 697
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1663
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ala1224Ala
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

3-447396-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 447396
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 447396
    reference: chr 3
allele count: 8
allele frequency: 6.652696005056049e-5
allele num: 120252
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000395239
  ensembl transcript: ENST00000445697
  gene symbol: CHL1
  hgvsc: ENST00000445697.1:c.*2C>T
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000256509
  ensembl transcript: ENST00000256509
  gene symbol: CHL1
  hgvsc: ENST00000256509.2:c.*2C>T
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000380628
  ensembl transcript: ENST00000397491
  gene symbol: CHL1
  hgvsc: ENST00000397491.2:c.*2C>T
  variant of: http://identifiers.org/hgnc/1939
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37209
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3932
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15379
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1244
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 990
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48195
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1213
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1667
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 5052
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff

3-447398-CAACAT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 447398
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 447393
    reference: chr 3
allele count: 6
allele frequency: 4.997001798920648e-5
allele num: 120072
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000395239
  ensembl transcript: ENST00000445697
  gene symbol: CHL1
  hgvsc: ENST00000445697.1:c.*6_*10delACATA
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000380628
  ensembl transcript: ENST00000397491
  gene symbol: CHL1
  hgvsc: ENST00000397491.2:c.*6_*10delACATA
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000256509
  ensembl transcript: ENST00000256509
  gene symbol: CHL1
  hgvsc: ENST00000256509.2:c.*6_*10delACATA
  variant of: http://identifiers.org/hgnc/1939
canonical: true
consequence: 3' UTR
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36842
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15352
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3947
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5041
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1201
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1181
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1236
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1665
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
reference allele: CAACAT
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

3-447400-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 447400
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 447400
    reference: chr 3
allele count: 1
allele frequency: 8.339866228545694e-6
allele num: 119906
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000395239
  ensembl transcript: ENST00000445697
  gene symbol: CHL1
  hgvsc: ENST00000445697.1:c.*6A>G
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000380628
  ensembl transcript: ENST00000397491
  gene symbol: CHL1
  hgvsc: ENST00000397491.2:c.*6A>G
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000256509
  ensembl transcript: ENST00000256509
  gene symbol: CHL1
  hgvsc: ENST00000256509.2:c.*6A>G
  variant of: http://identifiers.org/hgnc/1939
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3927
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15278
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36458
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1241
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1660
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1430
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 697
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1203
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4997
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47409
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

3-447414-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 447414
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 447414
    reference: chr 3
allele count: 5
allele frequency: 4.240234739395173e-5
allele num: 117918
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000395239
  ensembl transcript: ENST00000445697
  gene symbol: CHL1
  hgvsc: ENST00000445697.1:c.*20C>T
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000380628
  ensembl transcript: ENST00000397491
  gene symbol: CHL1
  hgvsc: ENST00000397491.2:c.*20C>T
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000256509
  ensembl transcript: ENST00000256509
  gene symbol: CHL1
  hgvsc: ENST00000256509.2:c.*20C>T
  variant of: http://identifiers.org/hgnc/1939
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3564
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30503
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2401
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6195
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13885
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39335
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2132
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1120
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4404
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4639
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1666
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1283
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1184
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

3-447415-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 447415
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 447415
    reference: chr 3
allele count: 16
allele frequency: 1.359318981190423e-4
allele num: 117706
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000380628
  ensembl transcript: ENST00000397491
  gene symbol: CHL1
  hgvsc: ENST00000397491.2:c.*21G>A
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000395239
  ensembl transcript: ENST00000445697
  gene symbol: CHL1
  hgvsc: ENST00000445697.1:c.*21G>A
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000256509
  ensembl transcript: ENST00000256509
  gene symbol: CHL1
  hgvsc: ENST00000256509.2:c.*21G>A
  variant of: http://identifiers.org/hgnc/1939
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6741
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1580
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29740
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13835
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2683
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3473
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4932
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2371
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1673
  bin: 9.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 1440
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38294
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1726
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4325
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1106
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1165
  bin: 7.75e1
  variant carriers: 0
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: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP

3-447420-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 447420
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 447420
    reference: chr 3
allele count: 1
allele frequency: 8.524858487349111e-6
allele num: 117304
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000380628
  ensembl transcript: ENST00000397491
  gene symbol: CHL1
  hgvsc: ENST00000397491.2:c.*26T>C
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000395239
  ensembl transcript: ENST00000445697
  gene symbol: CHL1
  hgvsc: ENST00000445697.1:c.*26T>C
  variant of: http://identifiers.org/hgnc/1939
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000134121
  ensembl protein: ENSP00000256509
  ensembl transcript: ENST00000256509
  gene symbol: CHL1
  hgvsc: ENST00000256509.2:c.*26T>C
  variant of: http://identifiers.org/hgnc/1939
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1758
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3268
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8651
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27104
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13273
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3993
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2013
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1658
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1075
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2311
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3235
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1143
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35637
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4190
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 676
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: DP

3-1134406-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1134406
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 1134406
    reference: chr 3
allele count: 3
allele frequency: 5.031868500503186e-4
allele num: 5962
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134115
  ensembl protein: ENSP00000380616
  ensembl transcript: ENST00000397479
  gene symbol: CNTN6
  hgvsc: ENST00000397479.2:c.-14G>C
  variant of: http://identifiers.org/hgnc/2176
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134115
  ensembl protein: ENSP00000408460
  ensembl transcript: ENST00000413210
  gene symbol: CNTN6
  hgvsc: ENST00000413210.1:c.-14G>C
  variant of: http://identifiers.org/hgnc/2176
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134115
  ensembl protein: ENSP00000442791
  ensembl transcript: ENST00000539053
  gene symbol: CNTN6
  hgvsc: ENST00000539053.1:c.-560G>C
  variant of: http://identifiers.org/hgnc/2176
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134115
  ensembl protein: ENSP00000407822
  ensembl transcript: ENST00000446702
  gene symbol: CNTN6
  hgvsc: ENST00000446702.2:c.-481G>C
  variant of: http://identifiers.org/hgnc/2176
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134115
  ensembl protein: ENSP00000341882
  ensembl transcript: ENST00000350110
  gene symbol: CNTN6
  hgvsc: ENST00000350110.2:c.-490G>C
  variant of: http://identifiers.org/hgnc/2176
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1842
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2993
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1583
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2983
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1026
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

3-1134423-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1134423
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 1134423
    reference: chr 3
allele count: 1
allele frequency: 1.253761283851555e-4
allele num: 7976
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134115
  ensembl protein: ENSP00000380616
  ensembl transcript: ENST00000397479
  gene symbol: CNTN6
  hgvsc: ENST00000397479.2:c.4G>A
  hgvsp: ENSP00000380616.2:p.Ala2Thr
  variant of: http://identifiers.org/hgnc/2176
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134115
  ensembl protein: ENSP00000408460
  ensembl transcript: ENST00000413210
  gene symbol: CNTN6
  hgvsc: ENST00000413210.1:c.4G>A
  hgvsp: ENSP00000408460.1:p.Ala2Thr
  variant of: http://identifiers.org/hgnc/2176
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134115
  ensembl protein: ENSP00000341882
  ensembl transcript: ENST00000350110
  gene symbol: CNTN6
  hgvsc: ENST00000350110.2:c.-473G>A
  variant of: http://identifiers.org/hgnc/2176
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134115
  ensembl protein: ENSP00000407822
  ensembl transcript: ENST00000446702
  gene symbol: CNTN6
  hgvsc: ENST00000446702.2:c.-464G>A
  variant of: http://identifiers.org/hgnc/2176
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134115
  ensembl protein: ENSP00000442791
  ensembl transcript: ENST00000539053
  gene symbol: CNTN6
  hgvsc: ENST00000539053.1:c.-543G>A
  variant of: http://identifiers.org/hgnc/2176
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1661
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2388
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2300
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1528
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2182
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala2Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: African
population: Latino
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum

3-1134441-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1134441
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 1134441
    reference: chr 3
allele count: 1
allele frequency: 9.582215408202377e-5
allele num: 10436
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134115
  ensembl protein: ENSP00000407822
  ensembl transcript: ENST00000446702
  gene symbol: CNTN6
  hgvsc: ENST00000446702.2:c.-446C>T
  variant of: http://identifiers.org/hgnc/2176
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134115
  ensembl protein: ENSP00000341882
  ensembl transcript: ENST00000350110
  gene symbol: CNTN6
  hgvsc: ENST00000350110.2:c.-455C>T
  variant of: http://identifiers.org/hgnc/2176
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134115
  ensembl protein: ENSP00000380616
  ensembl transcript: ENST00000397479
  gene symbol: CNTN6
  hgvsc: ENST00000397479.2:c.22C>T
  hgvsp: ENSP00000380616.2:p.Leu8Phe
  variant of: http://identifiers.org/hgnc/2176
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134115
  ensembl protein: ENSP00000442791
  ensembl transcript: ENST00000539053
  gene symbol: CNTN6
  hgvsc: ENST00000539053.1:c.-525C>T
  variant of: http://identifiers.org/hgnc/2176
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134115
  ensembl protein: ENSP00000408460
  ensembl transcript: ENST00000413210
  gene symbol: CNTN6
  hgvsc: ENST00000413210.1:c.22C>T
  hgvsp: ENSP00000408460.1:p.Leu8Phe
  variant of: http://identifiers.org/hgnc/2176
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3521
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1222
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 985
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu8Phe
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/3-1134445-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1134445
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 1134445
    reference: chr 3
allele count: 1194
allele frequency: 1.084862802107941e-1
allele num: 11006
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134115
  ensembl protein: ENSP00000407822
  ensembl transcript: ENST00000446702
  gene symbol: CNTN6
  hgvsc: ENST00000446702.2:c.-442C>A
  variant of: http://identifiers.org/hgnc/2176
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134115
  ensembl protein: ENSP00000380616
  ensembl transcript: ENST00000397479
  gene symbol: CNTN6
  hgvsc: ENST00000397479.2:c.26C>A
  hgvsp: ENSP00000380616.2:p.Ser9Ter
  variant of: http://identifiers.org/hgnc/2176
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134115
  ensembl protein: ENSP00000341882
  ensembl transcript: ENST00000350110
  gene symbol: CNTN6
  hgvsc: ENST00000350110.2:c.-451C>A
  variant of: http://identifiers.org/hgnc/2176
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134115
  ensembl protein: ENSP00000408460
  ensembl transcript: ENST00000413210
  gene symbol: CNTN6
  hgvsc: ENST00000413210.1:c.26C>A
  hgvsp: ENSP00000408460.1:p.Ser9Ter
  variant of: http://identifiers.org/hgnc/2176
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134115
  ensembl protein: ENSP00000442791
  ensembl transcript: ENST00000539053
  gene symbol: CNTN6
  hgvsc: ENST00000539053.1:c.-521C>A
  variant of: http://identifiers.org/hgnc/2176
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 3.75e1
  variant carriers: 133
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 3.25e1
  variant carriers: 207
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 2.75e1
  variant carriers: 259
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 4.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 4.25e1
  variant carriers: 78
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 1.75e1
  variant carriers: 98
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 1.25e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 2.5e0
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 7.5e0
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 3337
  bin: 2.25e1
  variant carriers: 226
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1099
  bin: 7.5e0
  variant carriers: 30
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 6.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 9.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 3.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 8.75e1
  variant carriers: 7
hgvs: p.Ser9Ter
num of homozygotes: 106
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: C
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

3-1134481-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1134481
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 1134481
    reference: chr 3
allele count: 9
allele frequency: 7.457739476300962e-4
allele num: 12068
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134115
  ensembl protein: ENSP00000341882
  ensembl transcript: ENST00000350110
  gene symbol: CNTN6
  hgvsc: ENST00000350110.2:c.-415G>C
  variant of: http://identifiers.org/hgnc/2176
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134115
  ensembl protein: ENSP00000380616
  ensembl transcript: ENST00000397479
  gene symbol: CNTN6
  hgvsc: ENST00000397479.2:c.62G>C
  hgvsp: ENSP00000380616.2:p.Arg21Thr
  variant of: http://identifiers.org/hgnc/2176
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134115
  ensembl protein: ENSP00000407822
  ensembl transcript: ENST00000446702
  gene symbol: CNTN6
  hgvsc: ENST00000446702.2:c.-406G>C
  variant of: http://identifiers.org/hgnc/2176
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134115
  ensembl protein: ENSP00000442791
  ensembl transcript: ENST00000539053
  gene symbol: CNTN6
  hgvsc: ENST00000539053.1:c.-485G>C
  variant of: http://identifiers.org/hgnc/2176
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134115
  ensembl protein: ENSP00000408460
  ensembl transcript: ENST00000413210
  gene symbol: CNTN6
  hgvsc: ENST00000413210.1:c.62G>C
  hgvsp: ENSP00000408460.1:p.Arg21Thr
  variant of: http://identifiers.org/hgnc/2176
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1525
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1669
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4023
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 3.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg21Thr
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 4705
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9244
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8092
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.235191420376606e-5
allele num: 16038
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11094
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63508
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.19e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.83e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.55e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.179999999999999e-1

FS
type: SiteQuality
SIO_000300: 2.873e0

MQ
type: SiteQuality
SIO_000300: 5.878e1

MQRankSum
type: SiteQuality
SIO_000300: -7.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-3

QD
type: SiteQuality
SIO_000300: 1.346e1

DP
type: SiteQuality
SIO_000300: 1.423232e6

GenotypeQuality
all individuals: 1163
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8092
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9244
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11094
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.574604774201676e-5
allele num: 63508
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16038
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -7.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-3

MQ
type: SiteQuality
SIO_000300: 5.878e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.19e-1

FS
type: SiteQuality
SIO_000300: 2.873e0

VQSLOD
type: SiteQuality
SIO_000300: 1.83e0

DP
type: SiteQuality
SIO_000300: 1.423232e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.179999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.346e1

GenotypeQuality
all individuals: 4782
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9300
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6508
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11148
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63816
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8172
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.202704379109291e-5
allele num: 16122
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.4e-2

DP
type: SiteQuality
SIO_000300: 1.429847e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.83e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.68e0

MQRankSum
type: SiteQuality
SIO_000300: -4.09e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.895e-1

MQ
type: SiteQuality
SIO_000300: 5.899e1

QD
type: SiteQuality
SIO_000300: 1.702e1

GenotypeQuality
all individuals: 2532
bin: 2.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.220703125e-4
allele num: 8192
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16142
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6518
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.950948800572861e-5
allele num: 11172
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9336
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63956
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -5.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.3e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

FS
type: SiteQuality
SIO_000300: 4.966e0

VQSLOD
type: SiteQuality
SIO_000300: 5.5e-1

DP
type: SiteQuality
SIO_000300: 1.433752e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.025e0

QD
type: SiteQuality
SIO_000300: 1.307e1

GenotypeQuality
all individuals: 1230
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.061796559779146e-4
allele num: 9418
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.942944017170452e-5
allele num: 11182
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8220
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64122
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16164
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6514
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.04e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.56e-1

DP
type: SiteQuality
SIO_000300: 1.440117e6

FS
type: SiteQuality
SIO_000300: 5.617e0

MQ
type: SiteQuality
SIO_000300: 5.938e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -9.12e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.86e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.49e-1

QD
type: SiteQuality
SIO_000300: 1.6e1

GenotypeQuality
all individuals: 1230
bin: 7.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8220
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6514
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11182
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64122
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.123593119558293e-4
allele num: 9418
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16164
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.617e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

QD
type: SiteQuality
SIO_000300: 1.6e1

MQRankSum
type: SiteQuality
SIO_000300: -2.04e-1

MQ
type: SiteQuality
SIO_000300: 5.938e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.56e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.86e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.49e-1

DP
type: SiteQuality
SIO_000300: 1.440117e6

GenotypeQuality
all individuals: 37
bin: 1.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6524
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16188
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.057305984351871e-4
allele num: 9458
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64318
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.38e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.55e-1

QD
type: SiteQuality
SIO_000300: 9.82e0

MQ
type: SiteQuality
SIO_000300: 5.957e1

VQSLOD
type: SiteQuality
SIO_000300: 9.64e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.4e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e-1

DP
type: SiteQuality
SIO_000300: 1.44276e6

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16214
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.051967178624027e-4
allele num: 9506
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11216
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8268
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64486
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.19e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.21e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.98e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

QD
type: SiteQuality
SIO_000300: 1.437e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.71e-1

DP
type: SiteQuality
SIO_000300: 1.446031e6

MQ
type: SiteQuality
SIO_000300: 5.896e1

VQSLOD
type: SiteQuality
SIO_000300: -4.368e-1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9616
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8326
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11248
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6534
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.542876539019348e-5
allele num: 64814
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

QD
type: SiteQuality
SIO_000300: 1.342e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.91e0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6552
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9952
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European (Non-Finnish)
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allele count: 7
allele frequency: 1.066000670057564e-4
allele num: 65666
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16386
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11336
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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num of homozygotes: 0

FS
type: SiteQuality
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ReadPosRankSum
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
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VQSLOD
type: SiteQuality
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ClippingRankSum
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QD
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GenotypeQuality
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variant carriers: 0

African
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allele frequency: 0.0e0
allele num: 10038
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East Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11346
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6552
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 6
allele frequency: 9.112447603426281e-5
allele num: 65844
num of homozygotes: 0

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

FS
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QD
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ReadPosRankSum
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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DP
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

Other
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allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6562
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele frequency: 6.0790273556231e-5
allele num: 16450
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African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66068
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.848e1

FS
type: SiteQuality
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QD
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.481687e6

MQRankSum
type: SiteQuality
SIO_000300: -2.71e-1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66096
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11380
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10200
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6564
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South Asian
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allele frequency: 1.823264859608606e-4
allele num: 16454
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Other
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allele frequency: 0.0e0
allele num: 900
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East Asian
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QD
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.482561e6

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.782e0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

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

Latino
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allele count: 1
allele frequency: 8.765778401122019e-5
allele num: 11408
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 902
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10326
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66342
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.51e0

MQ
type: SiteQuality
SIO_000300: 5.971e1

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.487786e6

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11428
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South Asian
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allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
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European (Non-Finnish)
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allele count: 10
allele frequency: 1.505298651252408e-4
allele num: 66432
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African
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allele frequency: 0.0e0
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 904
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -8.29e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.14e-1

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.989e1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

African
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allele frequency: 0.0e0
allele num: 10362
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 904
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Latino
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allele frequency: 0.0e0
allele num: 11430
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66460
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European (Finnish)
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allele count: 1
allele frequency: 1.520681265206813e-4
allele num: 6576
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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MQ
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

South Asian
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African
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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Other
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East Asian
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allele frequency: 1.159823706796567e-4
allele num: 8622
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European (Non-Finnish)
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allele num: 66508
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VQSLOD
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MQ
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QD
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InbreedingCoeff
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DP
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FS
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ReadPosRankSum
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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GenotypeQuality
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variant carriers: 0

South Asian
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East Asian
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allele frequency: 0.0e0
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Latino
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African
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Other
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European (Finnish)
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European (Non-Finnish)
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ClippingRankSum
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BaseQRankSum
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DP
type: SiteQuality
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FS
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ReadPosRankSum
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InbreedingCoeff
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MQ
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QD
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MQRankSum
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VQSLOD
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

African
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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Latino
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East Asian
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South Asian
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Other
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FS
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VQSLOD
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ClippingRankSum
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DP
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QD
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InbreedingCoeff
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ReadPosRankSum
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MQ
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MQRankSum
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BaseQRankSum
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
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Latino
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South Asian
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Other
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African
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European (Finnish)
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East Asian
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European (Non-Finnish)
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BaseQRankSum
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MQ
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DP
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VQSLOD
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MQRankSum
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QD
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InbreedingCoeff
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FS
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ReadPosRankSum
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ClippingRankSum
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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Latino
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African
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East Asian
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European (Finnish)
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Other
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ClippingRankSum
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VQSLOD
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DP
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ReadPosRankSum
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InbreedingCoeff
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QD
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MQ
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FS
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MQRankSum
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BaseQRankSum
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GenotypeQuality
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variant carriers: 0

African
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European (Finnish)
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Other
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South Asian
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Latino
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East Asian
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66560
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.15e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 4.9e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.4e0

QD
type: SiteQuality
SIO_000300: 1.361e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.21e-1

DP
type: SiteQuality
SIO_000300: 1.494061e6

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66588
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.745505323791238e-4
allele num: 11458
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.67e-1

DP
type: SiteQuality
SIO_000300: 1.494191e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.53e-1

FS
type: SiteQuality
SIO_000300: 6.76e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.76e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.49e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.06e0

QD
type: SiteQuality
SIO_000300: 1.097e1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

Latino
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allele count: 2
allele frequency: 1.745200698080279e-4
allele num: 11460
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66604
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.77e0

VQSLOD
type: SiteQuality
SIO_000300: 9.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 3.29e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.82e-1

QD
type: SiteQuality
SIO_000300: 1.443e1

DP
type: SiteQuality
SIO_000300: 1.495126e6

MQRankSum
type: SiteQuality
SIO_000300: 4.89e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.13e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.473830477072719e-4
allele num: 8636
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501411326647048e-5
allele num: 66604
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11460
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.963e1

FS
type: SiteQuality
SIO_000300: 3.29e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.77e0

DP
type: SiteQuality
SIO_000300: 1.495126e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.82e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.13e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.89e-1

QD
type: SiteQuality
SIO_000300: 1.443e1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66614
num of homozygotes: 0

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

South Asian
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allele count: 3
allele frequency: 1.817300702689605e-4
allele num: 16508
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.915e1

MQRankSum
type: SiteQuality
SIO_000300: -5.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.757e0

QD
type: SiteQuality
SIO_000300: 1.252e1

FS
type: SiteQuality
SIO_000300: 5.353e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -8.210000000000001e-2

DP
type: SiteQuality
SIO_000300: 1.495377e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.05e-1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.157407407407407e-4
allele num: 8640
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66616
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.227e0

MQ
type: SiteQuality
SIO_000300: 5.897e1

MQRankSum
type: SiteQuality
SIO_000300: 1.3e0

DP
type: SiteQuality
SIO_000300: 1.495303e6

VQSLOD
type: SiteQuality
SIO_000300: -1.46e-2

FS
type: SiteQuality
SIO_000300: 6.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.38e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.03e-1

QD
type: SiteQuality
SIO_000300: 1.263e1

GenotypeQuality
all individuals: 5157
bin: 6.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.028834504482675e-4
allele num: 16508
num of homozygotes: 1

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66624
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.090000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.73e-1

MQ
type: SiteQuality
SIO_000300: 5.95e1

MQRankSum
type: SiteQuality
SIO_000300: -1.04e-1

DP
type: SiteQuality
SIO_000300: 1.495627e6

VQSLOD
type: SiteQuality
SIO_000300: -1.107e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.21e-2

FS
type: SiteQuality
SIO_000300: 2.584e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.19e-1

QD
type: SiteQuality
SIO_000300: 1.529e1

GenotypeQuality
all individuals: 1302
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500870504892838e-5
allele num: 66628
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.258e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.26e-1

DP
type: SiteQuality
SIO_000300: 1.495774e6

VQSLOD
type: SiteQuality
SIO_000300: 3.1e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 9.3e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.1e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.2e-1

QD
type: SiteQuality
SIO_000300: 1.22e1

GenotypeQuality
all individuals: 717
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66644
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.515151515151515e-4
allele num: 6600
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -3.58e-1

QD
type: SiteQuality
SIO_000300: 1.753e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

FS
type: SiteQuality
SIO_000300: 1.0467e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.184e0

DP
type: SiteQuality
SIO_000300: 1.495958e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.32e0

VQSLOD
type: SiteQuality
SIO_000300: -1.18e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
all individuals: 1673
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.157675387821255e-4
allele num: 8638
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66646
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.495971e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.56e0

VQSLOD
type: SiteQuality
SIO_000300: -1.179e0

MQ
type: SiteQuality
SIO_000300: 5.951e1

QD
type: SiteQuality
SIO_000300: 1.38e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.9e-2

FS
type: SiteQuality
SIO_000300: 5.358e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.66e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.080000000000001e-1

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 5
allele frequency: 7.502100588164687e-5
allele num: 66648
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.85e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.87e-1

FS
type: SiteQuality
SIO_000300: 4.071e0

MQRankSum
type: SiteQuality
SIO_000300: 3.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.702e0

DP
type: SiteQuality
SIO_000300: 1.496277e6

MQ
type: SiteQuality
SIO_000300: 5.949e1

QD
type: SiteQuality
SIO_000300: 1.211e1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.500105007350515e-5
allele num: 66662
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -8.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.404e1

MQRankSum
type: SiteQuality
SIO_000300: 1.17e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.97e0

VQSLOD
type: SiteQuality
SIO_000300: -5.462e-1

DP
type: SiteQuality
SIO_000300: 1.496292e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 8.898999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.16e-1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

East Asian
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allele count: 0
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500330072615976e-5
allele num: 66652
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -4.658e-1

DP
type: SiteQuality
SIO_000300: 1.496665e6

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.139e0

FS
type: SiteQuality
SIO_000300: 3.027e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.043e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.93e-1

QD
type: SiteQuality
SIO_000300: 1.665e1

GenotypeQuality
all individuals: 414
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.500315022051544e-5
allele num: 66662
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

African
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allele count: 3
allele frequency: 2.883506343713956e-4
allele num: 10404
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.719916288803627e-5
allele num: 11468
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.63e-1

InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 9.1e-2

MQ
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.497001e6

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 8.37e-1

QD
type: SiteQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

South Asian
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allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
allele num: 11472
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66660
num of homozygotes: 0

East Asian
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allele frequency: 1.157407407407407e-4
allele num: 8640
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InbreedingCoeff
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DP
type: SiteQuality
SIO_000300: 1.496638e6

BaseQRankSum
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ClippingRankSum
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MQ
type: SiteQuality
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VQSLOD
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ReadPosRankSum
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MQRankSum
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FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

South Asian
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allele frequency: 3.63460140537921e-4
allele num: 16508
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66658
num of homozygotes: 0

African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
allele num: 8638
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Latino
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allele frequency: 0.0e0
allele num: 11470
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
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QD
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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SIO_000300: 1.03e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.15e-1

GenotypeQuality
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bin: 9.75e1
variant carriers: 4

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

East Asian
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allele frequency: 3.471418653089562e-4
allele num: 8642
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66656
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Other
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allele frequency: 0.0e0
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African
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allele frequency: 9.613535858488752e-5
allele num: 10402
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11472
num of homozygotes: 0

InbreedingCoeff
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BaseQRankSum
type: SiteQuality
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QD
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SIO_000300: 1.276e1

MQRankSum
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DP
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MQ
type: SiteQuality
SIO_000300: 5.976e1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.69e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.84e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66660
num of homozygotes: 0

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

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

African
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allele count: 1
allele frequency: 9.613535858488752e-5
allele num: 10402
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

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

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

FS
type: SiteQuality
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VQSLOD
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SIO_000300: 9.63e-1

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.53e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.88e-1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

African
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allele frequency: 0.0e0
allele num: 10404
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Other
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.500195025353296e-5
allele num: 66658
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

VQSLOD
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.314e0

DP
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 1.0e-4

QD
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MQ
type: SiteQuality
SIO_000300: 5.98e1

ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 7.55e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.0e-1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

European (Finnish)
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allele count: 1
allele frequency: 1.513317191283293e-4
allele num: 6608
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66658
num of homozygotes: 0

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.942e0

FS
type: SiteQuality
SIO_000300: 2.314e0

InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.98e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.89e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.55e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.0e-1

DP
type: SiteQuality
SIO_000300: 1.497206e6

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66654
num of homozygotes: 0

East Asian
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allele count: 4
allele frequency: 4.626416840157298e-4
allele num: 8646
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.979e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.361e0

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 4.057e0

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.52e-1

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

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

South Asian
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allele count: 59
allele frequency: 3.574024715289557e-3
allele num: 16508
num of homozygotes: 2

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8646
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African
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allele frequency: 0.0e0
allele num: 10404
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 906
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66656
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.500553e6

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.973e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.0e-2

FS
type: SiteQuality
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ReadPosRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: 4.62e-2

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 2.09e-1

VQSLOD
type: SiteQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

Latino
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allele frequency: 0.0e0
allele num: 11484
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African
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South Asian
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.500195025353296e-5
allele num: 66658
num of homozygotes: 0

East Asian
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num of homozygotes: 0

MQ
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
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FS
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QD
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DP
type: SiteQuality
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VQSLOD
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.500195025353296e-5
allele num: 66658
num of homozygotes: 0

Other
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African
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

MQRankSum
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BaseQRankSum
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QD
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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MQ
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DP
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FS
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VQSLOD
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6608
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Latino
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East Asian
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Other
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South Asian
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African
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allele frequency: 9.611687812379854e-5
allele num: 10404
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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MQ
type: SiteQuality
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MQRankSum
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QD
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FS
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DP
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
type: SiteQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

Latino
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num of homozygotes: 0

South Asian
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allele frequency: 3.028834504482675e-4
allele num: 16508
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Other
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allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.5001500150015e-5
allele num: 66660
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African
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East Asian
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allele count: 201
allele frequency: 2.325850497570007e-2
allele num: 8642
num of homozygotes: 0

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

QD
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
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InbreedingCoeff
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DP
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MQ
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BaseQRankSum
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MQRankSum
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

Other
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East Asian
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African
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allele frequency: 9.611687812379854e-5
allele num: 10404
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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South Asian
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VQSLOD
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ClippingRankSum
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DP
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InbreedingCoeff
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BaseQRankSum
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
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ReadPosRankSum
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QD
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GenotypeQuality
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variant carriers: 0

South Asian
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Latino
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Other
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East Asian
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allele frequency: 1.156871818602499e-4
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African
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European (Non-Finnish)
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European (Finnish)
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allele num: 6608
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ReadPosRankSum
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FS
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ClippingRankSum
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BaseQRankSum
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DP
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.856e1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.500105007350515e-5
allele num: 66662
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

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

FS
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ReadPosRankSum
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DP
type: SiteQuality
SIO_000300: 1.498851e6

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

MQ
type: SiteQuality
SIO_000300: 5.975e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.421e0

MQRankSum
type: SiteQuality
SIO_000300: -4.86e-1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 9.859999999999999e0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66668
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11484
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South Asian
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allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

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

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

East Asian
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VQSLOD
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BaseQRankSum
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FS
type: SiteQuality
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InbreedingCoeff
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MQ
type: SiteQuality
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ClippingRankSum
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ReadPosRankSum
type: SiteQuality
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DP
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SIO_000300: 1.498882e6

MQRankSum
type: SiteQuality
SIO_000300: 3.0e-3

QD
type: SiteQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

African
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allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

South Asian
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allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66668
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
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VQSLOD
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MQ
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.498798e6

QD
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.26e0

FS
type: SiteQuality
SIO_000300: 6.35e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.089e0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499970000599988e-5
allele num: 66668
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10404
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.873e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.48e-1

DP
type: SiteQuality
SIO_000300: 1.498798e6

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.89e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.55e0

QD
type: SiteQuality
SIO_000300: 1.528e1

GenotypeQuality
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variant carriers: 0

Latino
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allele count: 6
allele frequency: 5.221023320570832e-4
allele num: 11492
num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.499775011249437e-5
allele num: 66670
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6606
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South Asian
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Other
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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DP
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.5e-1

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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QD
type: SiteQuality
SIO_000300: 1.255e1

FS
type: SiteQuality
SIO_000300: 5.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.69e-1

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -7.8e-2

MQ
type: SiteQuality
SIO_000300: 5.956e1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

European (Non-Finnish)
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allele count: 13
allele frequency: 1.949844012479002e-4
allele num: 66672
num of homozygotes: 0

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

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 908
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.9e-1

DP
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.32e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.71e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 2.999850007499625e-5
allele num: 66670
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11488
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African
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8642
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6606
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Other
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allele count: 0
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allele num: 908
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ReadPosRankSum
type: SiteQuality
SIO_000300: 5.79e-1

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.499099e6

ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 1.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

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

African
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allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 908
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66662
num of homozygotes: 0

South Asian
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BaseQRankSum
type: SiteQuality
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QD
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.921e1

FS
type: SiteQuality
SIO_000300: 8.584e0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

Latino
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allele frequency: 8.715356458079135e-5
allele num: 11474
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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European (Non-Finnish)
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allele num: 66638
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African
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allele frequency: 0.0e0
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Other
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East Asian
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FS
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MQ
type: SiteQuality
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BaseQRankSum
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QD
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.18e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.84e-1

ClippingRankSum
type: SiteQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

Latino
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allele count: 22
allele frequency: 1.920726383796054e-3
allele num: 11454
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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East Asian
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South Asian
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.501411326647048e-5
allele num: 66604
num of homozygotes: 0

VQSLOD
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QD
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BaseQRankSum
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InbreedingCoeff
type: SiteQuality
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DP
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ClippingRankSum
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MQ
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

African
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East Asian
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Other
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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allele frequency: 8.732099196646873e-5
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66532
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South Asian
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

East Asian
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num of homozygotes: 0

South Asian
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Other
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allele frequency: 0.0e0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6568
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66468
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African
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allele frequency: 1.926411096127914e-4
allele num: 10382
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QD
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

East Asian
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num of homozygotes: 0

South Asian
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Latino
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Other
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num of homozygotes: 0

African
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.505343971097396e-5
allele num: 66430
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
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DP
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MQRankSum
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FS
type: SiteQuality
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ClippingRankSum
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ReadPosRankSum
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MQ
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BaseQRankSum
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GenotypeQuality
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variant carriers: 0

African
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Other
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.505978735580254e-5
allele num: 66402
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.899e1

DP
type: SiteQuality
SIO_000300: 1.491402e6

MQRankSum
type: SiteQuality
SIO_000300: -9.09e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.93e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.422e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

QD
type: SiteQuality
SIO_000300: 1.185e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.99e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.38e-1

GenotypeQuality
all individuals: 1262
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.641342074816814e-5
allele num: 10372
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.751620248730075e-4
allele num: 11418
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507159005275056e-5
allele num: 66350
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16426
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.549e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.39e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.81e-1

DP
type: SiteQuality
SIO_000300: 1.490657e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.16e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.379999999999999e-1

FS
type: SiteQuality
SIO_000300: 5.037e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.74e-1

GenotypeQuality
all individuals: 5090
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11396
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16408
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508978421608571e-5
allele num: 66270
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.418e1

DP
type: SiteQuality
SIO_000300: 1.487193e6

MQRankSum
type: SiteQuality
SIO_000300: -2.03e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.12e-1

MQ
type: SiteQuality
SIO_000300: 5.951e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.4e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.273e0

GenotypeQuality
all individuals: 8
bin: 1.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66144
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.787346221441125e-5
allele num: 11380
num of homozygotes: 0

South Asian
type: Population
allele count: 7
allele frequency: 4.27715996578272e-4
allele num: 16366
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10362
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 7.441e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.517e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.7e0

DP
type: SiteQuality
SIO_000300: 1.482365e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.3e-2

QD
type: SiteQuality
SIO_000300: 1.096e1

MQRankSum
type: SiteQuality
SIO_000300: -1.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

GenotypeQuality
all individuals: 47810
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16344
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66042
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11366
num of homozygotes: 0

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

African
type: Population
allele count: 6
allele frequency: 5.797101449275362e-4
allele num: 10350
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6536
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.138e1

MQ
type: SiteQuality
SIO_000300: 5.053e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.57e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.98e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.007e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

DP
type: SiteQuality
SIO_000300: 1.478595e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.53e-1

QD
type: SiteQuality
SIO_000300: 8.69e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.81e-1

GenotypeQuality
all individuals: 402
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6536
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516346212167162e-5
allele num: 65948
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10336
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11350
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16312
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.349e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.523e0

MQRankSum
type: SiteQuality
SIO_000300: 4.07e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.645e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.54e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 1.473104e6

VQSLOD
type: SiteQuality
SIO_000300: 9.25e-1

GenotypeQuality
all individuals: 1599
bin: 2.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15996
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6476
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10236
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8308
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.931761343336905e-5
allele num: 11196
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.171315724512466e-5
allele num: 64816
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.39296e6

FS
type: SiteQuality
SIO_000300: 6.919999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.29e-2

MQ
type: SiteQuality
SIO_000300: 5.964e1

MQRankSum
type: SiteQuality
SIO_000300: -2.88e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.1e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.19e0

VQSLOD
type: SiteQuality
SIO_000300: 1.69e0

QD
type: SiteQuality
SIO_000300: 1.378e1

GenotypeQuality
all individuals: 477
bin: 5.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.636068613815485e-5
allele num: 64710
num of homozygotes: 0

South Asian
type: Population
allele count: 13
allele frequency: 8.145363408521303e-4
allele num: 15960
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8284
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10224
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11174
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.62e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.200000000000001e-3

QD
type: SiteQuality
SIO_000300: 2.94e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 5.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.32e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.766e0

DP
type: SiteQuality
SIO_000300: 1.384798e6

GenotypeQuality
all individuals: 5998
bin: 2.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64474
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8244
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.279829188646068e-5
allele num: 15924
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10184
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11130
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -4.96e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.25e0

VQSLOD
type: SiteQuality
SIO_000300: 5.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.65e0

FS
type: SiteQuality
SIO_000300: 3.452e0

QD
type: SiteQuality
SIO_000300: 9.109999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.672e0

DP
type: SiteQuality
SIO_000300: 1.351544e6

GenotypeQuality
all individuals: 559
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 73
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
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variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 138
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1934
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 6.41025641025641e-3
allele num: 468
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 170
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3188
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 8.0082e4

ClippingRankSum
type: SiteQuality
SIO_000300: 2.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.27e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 8.86e-1

QD
type: SiteQuality
SIO_000300: 1.119e1

MQRankSum
type: SiteQuality
SIO_000300: 4.38e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.24e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.06e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.08e0

GenotypeQuality
all individuals: 37
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 116
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variant carriers: 0

GenotypeQuality
all individuals: 77
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variant carriers: 0

GenotypeQuality
all individuals: 345
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.25531914893617e-4
allele num: 2350
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4688
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 84
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 156
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.00682e5

ClippingRankSum
type: SiteQuality
SIO_000300: 5.71e-1

QD
type: SiteQuality
SIO_000300: 9.32e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.87e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.86e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.63e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.803e0

MQRankSum
type: SiteQuality
SIO_000300: 4.67e-1

GenotypeQuality
all individuals: 15
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3687
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 178
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.548946716232962e-4
allele num: 6456
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 194
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2958
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.15e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.2e0

VQSLOD
type: SiteQuality
SIO_000300: -7.248e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.016e0

MQRankSum
type: SiteQuality
SIO_000300: 3.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.110000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.26246e5

QD
type: SiteQuality
SIO_000300: 8.57e0

GenotypeQuality
all individuals: 680
bin: 2.25e1
variant carriers: 5

GenotypeQuality
all individuals: 3511
bin: 6.25e1
variant carriers: 7

GenotypeQuality
all individuals: 65
bin: 4.75e1
variant carriers: 4

GenotypeQuality
all individuals: 22
bin: 8.25e1
variant carriers: 13

GenotypeQuality
all individuals: 53
bin: 7.25e1
variant carriers: 8

GenotypeQuality
all individuals: 1013
bin: 9.75e1
variant carriers: 1012

South Asian
type: Population
allele count: 693
allele frequency: 1.010793465577596e-1
allele num: 6856
num of homozygotes: 39

African
type: Population
allele count: 271
allele frequency: 4.927272727272727e-1
allele num: 550
num of homozygotes: 61

European (Non-Finnish)
type: Population
allele count: 207
allele frequency: 6.673114119922631e-2
allele num: 3102
num of homozygotes: 5

East Asian
type: Population
allele count: 3
allele frequency: 1.54639175257732e-2
allele num: 194
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

Other
type: Population
allele count: 9
allele frequency: 7.5e-2
allele num: 120
num of homozygotes: 1

Latino
type: Population
allele count: 11
allele frequency: 6.043956043956044e-2
allele num: 182
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.38328e5

VQSLOD
type: SiteQuality
SIO_000300: 6.71e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.847e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.080000000000001e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.11e-1

QD
type: SiteQuality
SIO_000300: 1.557e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.2e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1