4-71468549-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71468549
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71468549
    reference: chr 4
allele count: 11
allele frequency: 9.997455193223543e-5
allele num: 110028
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000313809
  ensembl transcript: ENST00000322937
  gene symbol: AMBN
  hgvsc: ENST00000322937.6:c.605C>G
  hgvsp: ENSP00000313809.6:p.Pro202Arg
  variant of: http://identifiers.org/hgnc/452
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000391234
  ensembl transcript: ENST00000449493
  gene symbol: AMBN
  hgvsc: ENST00000449493.2:c.560C>G
  hgvsp: ENSP00000391234.2:p.Pro187Arg
  variant of: http://identifiers.org/hgnc/452
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2877
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13091
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 187
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 226
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2470
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4918
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6381
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1992
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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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: 9
genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 640
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1727
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genotype quality: GenotypeQuality
  all individuals: 374
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 33175
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro202Arg
num of homozygotes: 1
population: Latino
  type: Population
  allele count: 1
  allele frequency: 8.92379082634303e-5
  allele num: 11206
  num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum

4-71468549-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71468549
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71468549
    reference: chr 4
allele count: 2
allele frequency: 1.817719126040644e-5
allele num: 110028
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000391234
  ensembl transcript: ENST00000449493
  gene symbol: AMBN
  hgvsc: ENST00000449493.2:c.560C>T
  hgvsp: ENSP00000391234.2:p.Pro187Leu
  variant of: http://identifiers.org/hgnc/452
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000313809
  ensembl transcript: ENST00000322937
  gene symbol: AMBN
  hgvsc: ENST00000322937.6:c.605C>T
  hgvsp: ENSP00000313809.6:p.Pro202Leu
  variant of: http://identifiers.org/hgnc/452
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13091
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
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genotype depth: GenotypeDepth
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  bin: 2.5e0
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genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 126
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 33175
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro202Leu
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 2
  allele frequency: 3.356042554619593e-5
  allele num: 59594
  num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum

4-71468554-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71468554
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71468554
    reference: chr 4
allele count: 1
allele frequency: 9.075727873375444e-6
allele num: 110184
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000391234
  ensembl transcript: ENST00000449493
  gene symbol: AMBN
  hgvsc: ENST00000449493.2:c.564+1G>A
  variant of: http://identifiers.org/hgnc/452
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000313809
  ensembl transcript: ENST00000322937
  gene symbol: AMBN
  hgvsc: ENST00000322937.6:c.609+1G>A
  variant of: http://identifiers.org/hgnc/452
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: c.609+1G>A
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 862
  num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

4-71468565-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71468565
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71468565
    reference: chr 4
allele count: 1
allele frequency: 9.066183136899366e-6
allele num: 110300
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000313809
  ensembl transcript: ENST00000322937
  gene symbol: AMBN
  hgvsc: ENST00000322937.6:c.609+12T>A
  variant of: http://identifiers.org/hgnc/452
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000391234
  ensembl transcript: ENST00000449493
  gene symbol: AMBN
  hgvsc: ENST00000449493.2:c.564+12T>A
  variant of: http://identifiers.org/hgnc/452
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1808
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
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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
  all individuals: 1866
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num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7864
  num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD

4-71468567-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71468567
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71468567
    reference: chr 4
allele count: 14
allele frequency: 1.269979498902375e-4
allele num: 110238
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000391234
  ensembl transcript: ENST00000449493
  gene symbol: AMBN
  hgvsc: ENST00000449493.2:c.564+14T>C
  variant of: http://identifiers.org/hgnc/452
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000313809
  ensembl transcript: ENST00000322937
  gene symbol: AMBN
  hgvsc: ENST00000322937.6:c.609+14T>C
  variant of: http://identifiers.org/hgnc/452
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3901
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2447
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.25e1
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8880
  num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum

http://identifiers.org/exac.variant/4-71468569-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71468569
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71468569
    reference: chr 4
allele count: 1
allele frequency: 9.074080795615405e-6
allele num: 110204
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000391234
  ensembl transcript: ENST00000449493
  gene symbol: AMBN
  hgvsc: ENST00000449493.2:c.564+16A>C
  variant of: http://identifiers.org/hgnc/452
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000313809
  ensembl transcript: ENST00000322937
  gene symbol: AMBN
  hgvsc: ENST00000322937.6:c.609+16A>C
  variant of: http://identifiers.org/hgnc/452
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 15774
  num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

4-71468583-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71468583
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71468583
    reference: chr 4
allele count: 1
allele frequency: 9.271277582050807e-6
allele num: 107860
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000391234
  ensembl transcript: ENST00000449493
  gene symbol: AMBN
  hgvsc: ENST00000449493.2:c.564+30A>G
  variant of: http://identifiers.org/hgnc/452
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000313809
  ensembl transcript: ENST00000322937
  gene symbol: AMBN
  hgvsc: ENST00000322937.6:c.609+30A>G
  variant of: http://identifiers.org/hgnc/452
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.720992668571232e-5
  allele num: 58106
  num of homozygotes: 0
population: South Asian
population: Other
population: African
population: East Asian
population: European (Finnish)
population: Latino
reference allele: A
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

4-71468583-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71468583
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71468582
    reference: chr 4
allele count: 9602
allele frequency: 8.902280734285184e-2
allele num: 107860
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000391234
  ensembl transcript: ENST00000449493
  gene symbol: AMBN
  hgvsc: ENST00000449493.2:c.564+36delT
  variant of: http://identifiers.org/hgnc/452
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000313809
  ensembl transcript: ENST00000322937
  gene symbol: AMBN
  hgvsc: ENST00000322937.6:c.609+36delT
  variant of: http://identifiers.org/hgnc/452
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 5.75e1
  variant carriers: 111
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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num of homozygotes: 434
population: European (Finnish)
  type: Population
  allele count: 455
  allele frequency: 7.740728138822729e-2
  allele num: 5878
  num of homozygotes: 19
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: AT
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD

4-71468601-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71468601
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71468601
    reference: chr 4
allele count: 1
allele frequency: 9.201494322678003e-6
allele num: 108678
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000313809
  ensembl transcript: ENST00000322937
  gene symbol: AMBN
  hgvsc: ENST00000322937.6:c.609+48T>C
  variant of: http://identifiers.org/hgnc/452
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000391234
  ensembl transcript: ENST00000449493
  gene symbol: AMBN
  hgvsc: ENST00000449493.2:c.564+48T>C
  variant of: http://identifiers.org/hgnc/452
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2575
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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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: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2004
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 58548
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

4-71468640-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71468640
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71468639
    reference: chr 4
allele count: 1
allele frequency: 8.392218734789103e-6
allele num: 119158
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000313809
  ensembl transcript: ENST00000322937
  gene symbol: AMBN
  hgvsc: ENST00000322937.6:c.610-45delT
  variant of: http://identifiers.org/hgnc/452
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000391234
  ensembl transcript: ENST00000449493
  gene symbol: AMBN
  hgvsc: ENST00000449493.2:c.565-45delT
  variant of: http://identifiers.org/hgnc/452
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3788
  bin: 1.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 14582
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11494
  num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: AT
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

4-71468642-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71468642
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71468642
    reference: chr 4
allele count: 3
allele frequency: 2.5166096235152e-5
allele num: 119208
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000313809
  ensembl transcript: ENST00000322937
  gene symbol: AMBN
  hgvsc: ENST00000322937.6:c.610-47T>G
  variant of: http://identifiers.org/hgnc/452
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000391234
  ensembl transcript: ENST00000449493
  gene symbol: AMBN
  hgvsc: ENST00000449493.2:c.565-47T>G
  variant of: http://identifiers.org/hgnc/452
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7150
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 3
  allele frequency: 4.566905160602831e-5
  allele num: 65690
  num of homozygotes: 0
population: Other
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP

4-71468645-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71468645
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71468645
    reference: chr 4
allele count: 2
allele frequency: 1.678218403343011e-5
allele num: 119174
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000313809
  ensembl transcript: ENST00000322937
  gene symbol: AMBN
  hgvsc: ENST00000322937.6:c.610-44G>C
  variant of: http://identifiers.org/hgnc/452
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000391234
  ensembl transcript: ENST00000449493
  gene symbol: AMBN
  hgvsc: ENST00000449493.2:c.565-44G>C
  variant of: http://identifiers.org/hgnc/452
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8140
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 788
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  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6558
  num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

4-71468646-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71468646
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71468646
    reference: chr 4
allele count: 3
allele frequency: 2.516736296370866e-5
allele num: 119202
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000391234
  ensembl transcript: ENST00000449493
  gene symbol: AMBN
  hgvsc: ENST00000449493.2:c.565-43T>C
  variant of: http://identifiers.org/hgnc/452
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000313809
  ensembl transcript: ENST00000322937
  gene symbol: AMBN
  hgvsc: ENST00000322937.6:c.610-43T>C
  variant of: http://identifiers.org/hgnc/452
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8330
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10954
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 212
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1031
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7119
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1807
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 890
  num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD

4-71468649-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71468649
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71468648
    reference: chr 4
allele count: 2
allele frequency: 1.68044632654433e-5
allele num: 119016
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000391234
  ensembl transcript: ENST00000449493
  gene symbol: AMBN
  hgvsc: ENST00000449493.2:c.565-34delT
  variant of: http://identifiers.org/hgnc/452
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000313809
  ensembl transcript: ENST00000322937
  gene symbol: AMBN
  hgvsc: ENST00000322937.6:c.610-34delT
  variant of: http://identifiers.org/hgnc/452
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1663
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13282
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1734
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7163
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2160
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2856
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2169
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11100
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8632
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1802
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3702
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14565
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1031
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2805
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16701
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16358
  num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: CT
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP

4-71468653-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71468653
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71468653
    reference: chr 4
allele count: 1
allele frequency: 8.37885846432282e-6
allele num: 119348
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000313809
  ensembl transcript: ENST00000322937
  gene symbol: AMBN
  hgvsc: ENST00000322937.6:c.610-36T>C
  variant of: http://identifiers.org/hgnc/452
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000391234
  ensembl transcript: ENST00000449493
  gene symbol: AMBN
  hgvsc: ENST00000449493.2:c.565-36T>C
  variant of: http://identifiers.org/hgnc/452
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2169
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2854
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 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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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13439
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3007
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2816
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 1
  allele frequency: 1.029866117404737e-4
  allele num: 9710
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

4-71468654-TTGAC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71468654
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71468650
    reference: chr 4
allele count: 188
allele frequency: 1.575198994553833e-3
allele num: 119350
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000313809
  ensembl transcript: ENST00000322937
  gene symbol: AMBN
  hgvsc: ENST00000322937.6:c.610-31_610-28delCTGA
  variant of: http://identifiers.org/hgnc/452
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000391234
  ensembl transcript: ENST00000449493
  gene symbol: AMBN
  hgvsc: ENST00000449493.2:c.565-31_565-28delCTGA
  variant of: http://identifiers.org/hgnc/452
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11089
  bin: 3.25e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 218
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9421
  bin: 2.25e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 1.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 569
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13453
  bin: 2.75e1
  variant carriers: 35
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 2169
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2863
  bin: 4.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4704
  bin: 4.25e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 4450
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
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  variant carriers: 1
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 183
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 415
  bin: 4.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18312
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 2
population: European (Non-Finnish)
  type: Population
  allele count: 3
  allele frequency: 4.562182548131026e-5
  allele num: 65758
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
reference allele: TTGAC
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

4-71468656-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71468656
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71468656
    reference: chr 4
allele count: 1
allele frequency: 8.406186953597848e-6
allele num: 118960
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000391234
  ensembl transcript: ENST00000449493
  gene symbol: AMBN
  hgvsc: ENST00000449493.2:c.565-33G>A
  variant of: http://identifiers.org/hgnc/452
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000313809
  ensembl transcript: ENST00000322937
  gene symbol: AMBN
  hgvsc: ENST00000322937.6:c.610-33G>A
  variant of: http://identifiers.org/hgnc/452
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7137
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13484
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 595
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.25e1
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genotype depth: GenotypeDepth
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  bin: 7.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 218
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genotype depth: GenotypeDepth
  all individuals: 808
  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 14564
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6564
  num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum

4-71468664-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71468664
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71468664
    reference: chr 4
allele count: 188
allele frequency: 1.573669495923526e-3
allele num: 119466
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000391234
  ensembl transcript: ENST00000449493
  gene symbol: AMBN
  hgvsc: ENST00000449493.2:c.565-25A>T
  variant of: http://identifiers.org/hgnc/452
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000313809
  ensembl transcript: ENST00000322937
  gene symbol: AMBN
  hgvsc: ENST00000322937.6:c.610-25A>T
  variant of: http://identifiers.org/hgnc/452
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13876
  bin: 2.75e1
  variant carriers: 35
genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.25e1
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genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
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  bin: 2.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype depth: GenotypeDepth
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  bin: 1.25e1
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genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 5.75e1
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genotype depth: GenotypeDepth
  all individuals: 595
  bin: 6.75e1
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genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 216
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 2
population: African
  type: Population
  allele count: 2
  allele frequency: 2.059308072487644e-4
  allele num: 9712
  num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: DP

4-71468675-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71468675
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71468675
    reference: chr 4
allele count: 3
allele frequency: 2.504842695878699e-5
allele num: 119768
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000313809
  ensembl transcript: ENST00000322937
  gene symbol: AMBN
  hgvsc: ENST00000322937.6:c.610-14T>C
  variant of: http://identifiers.org/hgnc/452
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000391234
  ensembl transcript: ENST00000449493
  gene symbol: AMBN
  hgvsc: ENST00000449493.2:c.565-14T>C
  variant of: http://identifiers.org/hgnc/452
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: Latino
  type: Population
  allele count: 3
  allele frequency: 2.605523710265763e-4
  allele num: 11514
  num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/4-71468678-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71468678
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71468678
    reference: chr 4
allele count: 3
allele frequency: 2.503672052343437e-5
allele num: 119824
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000313809
  ensembl transcript: ENST00000322937
  gene symbol: AMBN
  hgvsc: ENST00000322937.6:c.610-11C>A
  variant of: http://identifiers.org/hgnc/452
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000391234
  ensembl transcript: ENST00000449493
  gene symbol: AMBN
  hgvsc: ENST00000449493.2:c.565-11C>A
  variant of: http://identifiers.org/hgnc/452
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1730
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 3
  allele frequency: 3.504672897196261e-4
  allele num: 8560
  num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

4-71468678-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71468678
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71468677
    reference: chr 4
allele count: 1
allele frequency: 8.345573507811457e-6
allele num: 119824
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000313809
  ensembl transcript: ENST00000322937
  gene symbol: AMBN
  hgvsc: ENST00000322937.6:c.610-10delT
  variant of: http://identifiers.org/hgnc/452
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000391234
  ensembl transcript: ENST00000449493
  gene symbol: AMBN
  hgvsc: ENST00000449493.2:c.565-10delT
  variant of: http://identifiers.org/hgnc/452
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14335
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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
  all individuals: 4455
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num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.513592056668887e-5
  allele num: 66068
  num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: CT
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

4-71468678-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71468678
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71468678
    reference: chr 4
allele count: 1
allele frequency: 8.345573507811457e-6
allele num: 119824
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000313809
  ensembl transcript: ENST00000322937
  gene symbol: AMBN
  hgvsc: ENST00000322937.6:c.610-11C>T
  variant of: http://identifiers.org/hgnc/452
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000391234
  ensembl transcript: ENST00000449493
  gene symbol: AMBN
  hgvsc: ENST00000449493.2:c.565-11C>T
  variant of: http://identifiers.org/hgnc/452
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2851
  bin: 4.75e1
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genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6576
  num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: DP
site quality: MQ
site quality: FS
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site quality: QD
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site quality: VQSLOD
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4-71468680-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71468680
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71468680
    reference: chr 4
allele count: 1
allele frequency: 8.341118377152009e-6
allele num: 119888
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000391234
  ensembl transcript: ENST00000449493
  gene symbol: AMBN
  hgvsc: ENST00000449493.2:c.565-9G>A
  variant of: http://identifiers.org/hgnc/452
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000313809
  ensembl transcript: ENST00000322937
  gene symbol: AMBN
  hgvsc: ENST00000322937.6:c.610-9G>A
  variant of: http://identifiers.org/hgnc/452
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: South Asian
  type: Population
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  allele num: 16460
  num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: G
site quality: DP
site quality: FS
site quality: QD
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4-71468681-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71468681
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71468681
    reference: chr 4
allele count: 1
allele frequency: 8.339448929214757e-6
allele num: 119912
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000391234
  ensembl transcript: ENST00000449493
  gene symbol: AMBN
  hgvsc: ENST00000449493.2:c.565-8T>C
  variant of: http://identifiers.org/hgnc/452
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000313809
  ensembl transcript: ENST00000322937
  gene symbol: AMBN
  hgvsc: ENST00000322937.6:c.610-8T>C
  variant of: http://identifiers.org/hgnc/452
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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population: Other
  type: Population
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  allele num: 896
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population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
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site quality: DP

4-71468684-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71468684
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71468684
    reference: chr 4
allele count: 1
allele frequency: 8.334305668994715e-6
allele num: 119986
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000313809
  ensembl transcript: ENST00000322937
  gene symbol: AMBN
  hgvsc: ENST00000322937.6:c.610-5T>C
  variant of: http://identifiers.org/hgnc/452
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000391234
  ensembl transcript: ENST00000449493
  gene symbol: AMBN
  hgvsc: ENST00000449493.2:c.565-5T>C
  variant of: http://identifiers.org/hgnc/452
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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hgvs: c.610-5T>C
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population: Latino
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  allele num: 11524
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population: South Asian
population: Other
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population: East Asian
population: European (Finnish)
population: African
reference allele: T
site quality: InbreedingCoeff
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4-71468689-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71468689
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71468689
    reference: chr 4
allele count: 2
allele frequency: 1.665639522294585e-5
allele num: 120074
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000391234
  ensembl transcript: ENST00000449493
  gene symbol: AMBN
  hgvsc: ENST00000449493.2:c.565C>G
  hgvsp: ENSP00000391234.2:p.Leu189Val
  variant of: http://identifiers.org/hgnc/452
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000313809
  ensembl transcript: ENST00000322937
  gene symbol: AMBN
  hgvsc: ENST00000322937.6:c.610C>G
  hgvsp: ENSP00000313809.6:p.Leu204Val
  variant of: http://identifiers.org/hgnc/452
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2815
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu204Val
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: VQSLOD

4-71468692-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71468692
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71468692
    reference: chr 4
allele count: 1
allele frequency: 8.324731111185109e-6
allele num: 120124
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000313809
  ensembl transcript: ENST00000322937
  gene symbol: AMBN
  hgvsc: ENST00000322937.6:c.613C>T
  hgvsp: ENSP00000313809.6:p.Pro205Ser
  variant of: http://identifiers.org/hgnc/452
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000391234
  ensembl transcript: ENST00000449493
  gene symbol: AMBN
  hgvsc: ENST00000449493.2:c.568C>T
  hgvsp: ENSP00000391234.2:p.Pro190Ser
  variant of: http://identifiers.org/hgnc/452
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2851
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1729
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
hgvs: p.Pro205Ser
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9786
  num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
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4-71468698-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71468698
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71468698
    reference: chr 4
allele count: 1
allele frequency: 8.319882856049386e-6
allele num: 120194
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000391234
  ensembl transcript: ENST00000449493
  gene symbol: AMBN
  hgvsc: ENST00000449493.2:c.574T>A
  hgvsp: ENSP00000391234.2:p.Leu192Met
  variant of: http://identifiers.org/hgnc/452
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000313809
  ensembl transcript: ENST00000322937
  gene symbol: AMBN
  hgvsc: ENST00000322937.6:c.619T>A
  hgvsp: ENSP00000313809.6:p.Leu207Met
  variant of: http://identifiers.org/hgnc/452
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype 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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hgvs: p.Leu207Met
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.508068164681044e-5
  allele num: 66310
  num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum

4-71468711-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71468711
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71468711
    reference: chr 4
allele count: 1
allele frequency: 8.314901967305805e-6
allele num: 120266
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000313809
  ensembl transcript: ENST00000322937
  gene symbol: AMBN
  hgvsc: ENST00000322937.6:c.632A>T
  hgvsp: ENSP00000313809.6:p.Asp211Val
  variant of: http://identifiers.org/hgnc/452
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000391234
  ensembl transcript: ENST00000449493
  gene symbol: AMBN
  hgvsc: ENST00000449493.2:c.587A>T
  hgvsp: ENSP00000391234.2:p.Asp196Val
  variant of: http://identifiers.org/hgnc/452
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2169
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Asp211Val
num of homozygotes: 0
population: East Asian
  type: Population
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  allele frequency: 0.0e0
  allele num: 8578
  num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
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site quality: MQRankSum
site quality: DP

4-71468718-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71468718
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71468718
    reference: chr 4
allele count: 20
allele frequency: 1.663063362714119e-4
allele num: 120260
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000313809
  ensembl transcript: ENST00000322937
  gene symbol: AMBN
  hgvsc: ENST00000322937.6:c.639A>G
  hgvsp: ENST00000322937.6:c.639A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/452
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000391234
  ensembl transcript: ENST00000449493
  gene symbol: AMBN
  hgvsc: ENST00000449493.2:c.594A>G
  hgvsp: ENST00000449493.2:c.594A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/452
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 175
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gln213Gln
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11538
  num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum

4-71468729-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71468729
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71468729
    reference: chr 4
allele count: 1
allele frequency: 8.315593400745077e-6
allele num: 120256
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000391234
  ensembl transcript: ENST00000449493
  gene symbol: AMBN
  hgvsc: ENST00000449493.2:c.603+2T>G
  variant of: http://identifiers.org/hgnc/452
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000313809
  ensembl transcript: ENST00000322937
  gene symbol: AMBN
  hgvsc: ENST00000322937.6:c.648+2T>G
  variant of: http://identifiers.org/hgnc/452
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10918
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2169
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11333
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2859
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1725
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4457
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 1
genotype quality: GenotypeQuality
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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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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2815
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
hgvs: c.648+2T>G
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 900
  num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP

4-71468744-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71468744
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71468744
    reference: chr 4
allele count: 1
allele frequency: 8.322652595835345e-6
allele num: 120154
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000391234
  ensembl transcript: ENST00000449493
  gene symbol: AMBN
  hgvsc: ENST00000449493.2:c.603+17A>G
  variant of: http://identifiers.org/hgnc/452
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000313809
  ensembl transcript: ENST00000322937
  gene symbol: AMBN
  hgvsc: ENST00000322937.6:c.648+17A>G
  variant of: http://identifiers.org/hgnc/452
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7154
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10477
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2169
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2859
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11340
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 691
  bin: 2.25e1
  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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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1809
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 900
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: DP
site quality: ClippingRankSum

4-71468745-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71468745
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71468745
    reference: chr 4
allele count: 1
allele frequency: 8.32279113123377e-6
allele num: 120152
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000391234
  ensembl transcript: ENST00000449493
  gene symbol: AMBN
  hgvsc: ENST00000449493.2:c.603+18T>C
  variant of: http://identifiers.org/hgnc/452
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000313809
  ensembl transcript: ENST00000322937
  gene symbol: AMBN
  hgvsc: ENST00000322937.6:c.648+18T>C
  variant of: http://identifiers.org/hgnc/452
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11330
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14654
  bin: 2.75e1
  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
  all individuals: 391
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4697
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 79
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 7319
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9810
  num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

4-71468746-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71468746
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71468746
    reference: chr 4
allele count: 3
allele frequency: 2.496837339370131e-5
allele num: 120152
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000391234
  ensembl transcript: ENST00000449493
  gene symbol: AMBN
  hgvsc: ENST00000449493.2:c.603+19G>A
  variant of: http://identifiers.org/hgnc/452
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000313809
  ensembl transcript: ENST00000322937
  gene symbol: AMBN
  hgvsc: ENST00000322937.6:c.648+19G>A
  variant of: http://identifiers.org/hgnc/452
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2858
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2169
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 902
  num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

4-71468751-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71468751
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71468751
    reference: chr 4
allele count: 1
allele frequency: 8.327781479013991e-6
allele num: 120080
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000391234
  ensembl transcript: ENST00000449493
  gene symbol: AMBN
  hgvsc: ENST00000449493.2:c.603+24A>G
  variant of: http://identifiers.org/hgnc/452
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000313809
  ensembl transcript: ENST00000322937
  gene symbol: AMBN
  hgvsc: ENST00000322937.6:c.648+24A>G
  variant of: http://identifiers.org/hgnc/452
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1725
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.25e1
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genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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: 390
  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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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 1.25e1
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8574
  num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

4-71468753-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71468753
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71468753
    reference: chr 4
allele count: 4
allele frequency: 3.33127904458917e-5
allele num: 120074
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000391234
  ensembl transcript: ENST00000449493
  gene symbol: AMBN
  hgvsc: ENST00000449493.2:c.603+26T>C
  variant of: http://identifiers.org/hgnc/452
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000313809
  ensembl transcript: ENST00000322937
  gene symbol: AMBN
  hgvsc: ENST00000322937.6:c.648+26T>C
  variant of: http://identifiers.org/hgnc/452
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6596
  num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff

4-71468757-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71468757
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71468757
    reference: chr 4
allele count: 2
allele frequency: 1.666611112962901e-5
allele num: 120004
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000391234
  ensembl transcript: ENST00000449493
  gene symbol: AMBN
  hgvsc: ENST00000449493.2:c.603+30T>C
  variant of: http://identifiers.org/hgnc/452
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000313809
  ensembl transcript: ENST00000322937
  gene symbol: AMBN
  hgvsc: ENST00000322937.6:c.648+30T>C
  variant of: http://identifiers.org/hgnc/452
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1725
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 2
  allele frequency: 3.019688368160406e-5
  allele num: 66232
  num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: Other
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/4-71468760-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71468760
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71468759
    reference: chr 4
allele count: 1
allele frequency: 8.342510094437214e-6
allele num: 119868
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000313809
  ensembl transcript: ENST00000322937
  gene symbol: AMBN
  hgvsc: ENST00000322937.6:c.648+38delA
  variant of: http://identifiers.org/hgnc/452
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000391234
  ensembl transcript: ENST00000449493
  gene symbol: AMBN
  hgvsc: ENST00000449493.2:c.603+38delA
  variant of: http://identifiers.org/hgnc/452
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1727
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: Latino
  type: Population
  allele count: 1
  allele frequency: 8.673026886383348e-5
  allele num: 11530
  num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: South Asian
population: East Asian
reference allele: CA
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

4-71468766-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71468766
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71468766
    reference: chr 4
allele count: 1
allele frequency: 8.345712807330875e-6
allele num: 119822
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000391234
  ensembl transcript: ENST00000449493
  gene symbol: AMBN
  hgvsc: ENST00000449493.2:c.603+39C>T
  variant of: http://identifiers.org/hgnc/452
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000313809
  ensembl transcript: ENST00000322937
  gene symbol: AMBN
  hgvsc: ENST00000322937.6:c.648+39C>T
  variant of: http://identifiers.org/hgnc/452
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 1178
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6590
  num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD

4-71468768-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71468768
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71468768
    reference: chr 4
allele count: 1
allele frequency: 8.350730688935283e-6
allele num: 119750
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000391234
  ensembl transcript: ENST00000449493
  gene symbol: AMBN
  hgvsc: ENST00000449493.2:c.603+41G>A
  variant of: http://identifiers.org/hgnc/452
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000313809
  ensembl transcript: ENST00000322937
  gene symbol: AMBN
  hgvsc: ENST00000322937.6:c.648+41G>A
  variant of: http://identifiers.org/hgnc/452
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 894
  num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
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site quality: InbreedingCoeff
site quality: VQSLOD
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site quality: QD
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4-71468928-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71468928
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71468928
    reference: chr 4
allele count: 2
allele frequency: 1.77367860943597e-5
allele num: 112760
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000313809
  ensembl transcript: ENST00000322937
  gene symbol: AMBN
  hgvsc: ENST00000322937.6:c.649-49T>A
  variant of: http://identifiers.org/hgnc/452
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000391234
  ensembl transcript: ENST00000449493
  gene symbol: AMBN
  hgvsc: ENST00000449493.2:c.604-49T>A
  variant of: http://identifiers.org/hgnc/452
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13364
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: African
  type: Population
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  allele frequency: 0.0e0
  allele num: 9828
  num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ClippingRankSum

4-71468933-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71468933
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71468933
    reference: chr 4
allele count: 2
allele frequency: 1.769160002830656e-5
allele num: 113048
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000313809
  ensembl transcript: ENST00000322937
  gene symbol: AMBN
  hgvsc: ENST00000322937.6:c.649-44A>G
  variant of: http://identifiers.org/hgnc/452
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000391234
  ensembl transcript: ENST00000449493
  gene symbol: AMBN
  hgvsc: ENST00000449493.2:c.604-44A>G
  variant of: http://identifiers.org/hgnc/452
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: Latino
  type: Population
  allele count: 2
  allele frequency: 1.836884643644379e-4
  allele num: 10888
  num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: African
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

4-71468935-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71468935
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71468935
    reference: chr 4
allele count: 1
allele frequency: 8.846895624325423e-6
allele num: 113034
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000391234
  ensembl transcript: ENST00000449493
  gene symbol: AMBN
  hgvsc: ENST00000449493.2:c.604-42G>A
  variant of: http://identifiers.org/hgnc/452
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000313809
  ensembl transcript: ENST00000322937
  gene symbol: AMBN
  hgvsc: ENST00000322937.6:c.649-42G>A
  variant of: http://identifiers.org/hgnc/452
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8883
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3988
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 884
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4645
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 1793
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 1550
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18177
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6368
  num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

4-71468950-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71468950
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71468950
    reference: chr 4
allele count: 1
allele frequency: 8.747681864305959e-6
allele num: 114316
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000313809
  ensembl transcript: ENST00000322937
  gene symbol: AMBN
  hgvsc: ENST00000322937.6:c.649-27A>T
  variant of: http://identifiers.org/hgnc/452
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000391234
  ensembl transcript: ENST00000449493
  gene symbol: AMBN
  hgvsc: ENST00000449493.2:c.604-27A>T
  variant of: http://identifiers.org/hgnc/452
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5219
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24135
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10789
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3597
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4826
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1269
  bin: 4.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1145
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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: 2.5e0
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4981
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11036
  num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

4-71468955-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71468955
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71468955
    reference: chr 4
allele count: 1
allele frequency: 8.697769891799743e-6
allele num: 114972
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000391234
  ensembl transcript: ENST00000449493
  gene symbol: AMBN
  hgvsc: ENST00000449493.2:c.604-22T>C
  variant of: http://identifiers.org/hgnc/452
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000313809
  ensembl transcript: ENST00000322937
  gene symbol: AMBN
  hgvsc: ENST00000322937.6:c.649-22T>C
  variant of: http://identifiers.org/hgnc/452
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2901
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 1
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 876
  num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

http://identifiers.org/exac.variant/4-71468968-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71468968
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71468968
    reference: chr 4
allele count: 2
allele frequency: 1.703896812009065e-5
allele num: 117378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000391234
  ensembl transcript: ENST00000449493
  gene symbol: AMBN
  hgvsc: ENST00000449493.2:c.604-9C>A
  variant of: http://identifiers.org/hgnc/452
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000313809
  ensembl transcript: ENST00000322937
  gene symbol: AMBN
  hgvsc: ENST00000322937.6:c.649-9C>A
  variant of: http://identifiers.org/hgnc/452
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12715
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1820
  bin: 7.5e0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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: 1827
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num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6478
  num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ

4-71468981-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71468981
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71468981
    reference: chr 4
allele count: 2
allele frequency: 1.682821755519655e-5
allele num: 118848
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000313809
  ensembl transcript: ENST00000322937
  gene symbol: AMBN
  hgvsc: ENST00000322937.6:c.653T>C
  hgvsp: ENSP00000313809.6:p.Phe218Ser
  variant of: http://identifiers.org/hgnc/452
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000391234
  ensembl transcript: ENST00000449493
  gene symbol: AMBN
  hgvsc: ENST00000449493.2:c.608T>C
  hgvsp: ENSP00000391234.2:p.Phe203Ser
  variant of: http://identifiers.org/hgnc/452
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 301
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  variant carriers: 0
hgvs: p.Phe218Ser
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8458
  num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
reference allele: T
site quality: MQ
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

4-71468985-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71468985
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71468985
    reference: chr 4
allele count: 18735
allele frequency: 1.564613919927845e-1
allele num: 119742
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000391234
  ensembl transcript: ENST00000449493
  gene symbol: AMBN
  hgvsc: ENST00000449493.2:c.612A>G
  hgvsp: ENST00000449493.2:c.612A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/452
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000313809
  ensembl transcript: ENST00000322937
  gene symbol: AMBN
  hgvsc: ENST00000322937.6:c.657A>G
  hgvsp: ENST00000322937.6:c.657A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/452
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4084
  bin: 3.75e1
  variant carriers: 2326
genotype depth: GenotypeDepth
  all individuals: 1915
  bin: 4.75e1
  variant carriers: 1432
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 5.25e1
  variant carriers: 1043
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 6.25e1
  variant carriers: 552
genotype depth: GenotypeDepth
  all individuals: 2838
  bin: 4.25e1
  variant carriers: 1983
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.75e1
  variant carriers: 179
genotype depth: GenotypeDepth
  all individuals: 12595
  bin: 2.75e1
  variant carriers: 1828
genotype depth: GenotypeDepth
  all individuals: 7144
  bin: 3.25e1
  variant carriers: 2292
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 9.25e1
  variant carriers: 187
genotype depth: GenotypeDepth
  all individuals: 23241
  bin: 2.25e1
  variant carriers: 1154
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 8.25e1
  variant carriers: 239
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 7.75e1
  variant carriers: 274
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 1.25e1
  variant carriers: 131
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 5.75e1
  variant carriers: 759
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 7.5e0
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 1.75e1
  variant carriers: 478
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 6.75e1
  variant carriers: 441
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 9.75e1
  variant carriers: 1240
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 7.25e1
  variant carriers: 357
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 2.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 5.75e1
  variant carriers: 34
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.5e0
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 7.5e0
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 4.25e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 3.75e1
  variant carriers: 32
genotype quality: GenotypeQuality
  all individuals: 18811
  bin: 9.75e1
  variant carriers: 16088
genotype quality: GenotypeQuality
  all individuals: 1028
  bin: 8.25e1
  variant carriers: 118
genotype quality: GenotypeQuality
  all individuals: 678
  bin: 9.25e1
  variant carriers: 116
genotype quality: GenotypeQuality
  all individuals: 753
  bin: 2.25e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 4.75e1
  variant carriers: 35
genotype quality: GenotypeQuality
  all individuals: 1430
  bin: 7.75e1
  variant carriers: 85
genotype quality: GenotypeQuality
  all individuals: 30360
  bin: 6.25e1
  variant carriers: 66
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 8.75e1
  variant carriers: 82
genotype quality: GenotypeQuality
  all individuals: 4306
  bin: 6.75e1
  variant carriers: 73
genotype quality: GenotypeQuality
  all individuals: 1267
  bin: 7.25e1
  variant carriers: 60
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 3.25e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 5.25e1
  variant carriers: 42
hgvs: p.Gln219Gln
num of homozygotes: 1869
population: African
  type: Population
  allele count: 587
  allele frequency: 5.762811702336541e-2
  allele num: 10186
  num of homozygotes: 23
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

4-71468986-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71468986
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71468986
    reference: chr 4
allele count: 1
allele frequency: 8.337641114575865e-6
allele num: 119938
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000391234
  ensembl transcript: ENST00000449493
  gene symbol: AMBN
  hgvsc: ENST00000449493.2:c.613A>G
  hgvsp: ENSP00000391234.2:p.Ile205Val
  variant of: http://identifiers.org/hgnc/452
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000313809
  ensembl transcript: ENST00000322937
  gene symbol: AMBN
  hgvsc: ENST00000322937.6:c.658A>G
  hgvsp: ENSP00000313809.6:p.Ile220Val
  variant of: http://identifiers.org/hgnc/452
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3348
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9260
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17192
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24246
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1442
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2160
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1893
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6893
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40053
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 874
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4253
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 812
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ile220Val
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11442
  num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: FS

http://identifiers.org/exac.variant/4-71468990-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71468990
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71468990
    reference: chr 4
allele count: 1
allele frequency: 8.329307501374335e-6
allele num: 120058
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000313809
  ensembl transcript: ENST00000322937
  gene symbol: AMBN
  hgvsc: ENST00000322937.6:c.662C>A
  hgvsp: ENSP00000313809.6:p.Ala221Asp
  variant of: http://identifiers.org/hgnc/452
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000391234
  ensembl transcript: ENST00000449493
  gene symbol: AMBN
  hgvsc: ENST00000449493.2:c.617C>A
  hgvsp: ENSP00000391234.2:p.Ala206Asp
  variant of: http://identifiers.org/hgnc/452
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9294
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24370
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3350
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17308
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6886
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1418
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 4243
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1883
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 857
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2119
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40390
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala221Asp
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6550
  num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

4-71468992-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71468992
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71468992
    reference: chr 4
allele count: 3
allele frequency: 2.496920464760129e-5
allele num: 120148
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000391234
  ensembl transcript: ENST00000449493
  gene symbol: AMBN
  hgvsc: ENST00000449493.2:c.619C>T
  hgvsp: ENSP00000391234.2:p.Arg207Cys
  variant of: http://identifiers.org/hgnc/452
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000313809
  ensembl transcript: ENST00000322937
  gene symbol: AMBN
  hgvsc: ENST00000322937.6:c.664C>T
  hgvsp: ENSP00000313809.6:p.Arg222Cys
  variant of: http://identifiers.org/hgnc/452
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17401
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3359
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24400
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9318
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4247
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 676
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 175
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 850
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2116
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40532
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6898
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg222Cys
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8494
  num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD

4-71468993-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71468993
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71468993
    reference: chr 4
allele count: 36
allele frequency: 2.995805871779509e-4
allele num: 120168
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000313809
  ensembl transcript: ENST00000322937
  gene symbol: AMBN
  hgvsc: ENST00000322937.6:c.665G>A
  hgvsp: ENSP00000313809.6:p.Arg222His
  variant of: http://identifiers.org/hgnc/452
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000391234
  ensembl transcript: ENST00000449493
  gene symbol: AMBN
  hgvsc: ENST00000449493.2:c.620G>A
  hgvsp: ENSP00000391234.2:p.Arg207His
  variant of: http://identifiers.org/hgnc/452
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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: 524
  bin: 7.5e0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.75e1
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genotype depth: GenotypeDepth
  all individuals: 82
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  variant carriers: 2
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 1886
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2101
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg222His
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 1
  allele frequency: 1.177856301531213e-4
  allele num: 8490
  num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: European (Finnish)
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD

4-71469006-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71469006
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71469006
    reference: chr 4
allele count: 1919
allele frequency: 1.593192195931922e-2
allele num: 120450
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000313809
  ensembl transcript: ENST00000322937
  gene symbol: AMBN
  hgvsc: ENST00000322937.6:c.678C>T
  hgvsp: ENST00000322937.6:c.678C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/452
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000391234
  ensembl transcript: ENST00000449493
  gene symbol: AMBN
  hgvsc: ENST00000449493.2:c.633C>T
  hgvsp: ENST00000449493.2:c.633C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/452
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17531
  bin: 2.75e1
  variant carriers: 133
genotype depth: GenotypeDepth
  all individuals: 217
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  variant carriers: 57
genotype depth: GenotypeDepth
  all individuals: 9367
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  variant carriers: 187
genotype depth: GenotypeDepth
  all individuals: 191
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  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 3463
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genotype depth: GenotypeDepth
  all individuals: 396
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  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 1.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 6.25e1
  variant carriers: 88
genotype depth: GenotypeDepth
  all individuals: 352
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genotype depth: GenotypeDepth
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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: 128
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genotype depth: GenotypeDepth
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  bin: 4.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 677
  bin: 5.25e1
  variant carriers: 186
genotype depth: GenotypeDepth
  all individuals: 445
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  variant carriers: 113
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 1816
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genotype quality: GenotypeQuality
  all individuals: 1311
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  variant carriers: 2
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1976
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genotype quality: GenotypeQuality
  all individuals: 160
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genotype quality: GenotypeQuality
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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: 20
  bin: 1.75e1
  variant carriers: 2
hgvs: p.His226His
num of homozygotes: 22
population: European (Finnish)
  type: Population
  allele count: 83
  allele frequency: 1.264858274916184e-2
  allele num: 6562
  num of homozygotes: 2
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

4-71469014-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71469014
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71469014
    reference: chr 4
allele count: 1
allele frequency: 8.29737802854298e-6
allele num: 120520
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000313809
  ensembl transcript: ENST00000322937
  gene symbol: AMBN
  hgvsc: ENST00000322937.6:c.686T>A
  hgvsp: ENSP00000313809.6:p.Met229Lys
  variant of: http://identifiers.org/hgnc/452
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000391234
  ensembl transcript: ENST00000449493
  gene symbol: AMBN
  hgvsc: ENST00000449493.2:c.641T>A
  hgvsp: ENSP00000391234.2:p.Met214Lys
  variant of: http://identifiers.org/hgnc/452
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 816
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  variant carriers: 0
hgvs: p.Met229Lys
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16486
  num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: DP

4-71469016-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71469016
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71469016
    reference: chr 4
allele count: 43
allele frequency: 3.567872552273482e-4
allele num: 120520
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000391234
  ensembl transcript: ENST00000449493
  gene symbol: AMBN
  hgvsc: ENST00000449493.2:c.643C>T
  hgvsp: ENSP00000391234.2:p.Pro215Ser
  variant of: http://identifiers.org/hgnc/452
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000313809
  ensembl transcript: ENST00000322937
  gene symbol: AMBN
  hgvsc: ENST00000322937.6:c.688C>T
  hgvsp: ENSP00000313809.6:p.Pro230Ser
  variant of: http://identifiers.org/hgnc/452
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 96
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  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 373
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1885
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  variant carriers: 0
hgvs: p.Pro230Ser
num of homozygotes: 1
population: South Asian
  type: Population
  allele count: 34
  allele frequency: 2.062355938371952e-3
  allele num: 16486
  num of homozygotes: 1
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: QD

4-71469019-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71469019
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71469019
    reference: chr 4
allele count: 1
allele frequency: 8.296276631047985e-6
allele num: 120536
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000391234
  ensembl transcript: ENST00000449493
  gene symbol: AMBN
  hgvsc: ENST00000449493.2:c.646C>G
  hgvsp: ENSP00000391234.2:p.Gln216Glu
  variant of: http://identifiers.org/hgnc/452
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000313809
  ensembl transcript: ENST00000322937
  gene symbol: AMBN
  hgvsc: ENST00000322937.6:c.691C>G
  hgvsp: ENSP00000313809.6:p.Gln231Glu
  variant of: http://identifiers.org/hgnc/452
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9739
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.75e1
  variant carriers: 0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1882
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3906
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2021
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 212
  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 548
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 7047
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1335
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gln231Glu
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10196
  num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff

4-71469029-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71469029
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71469029
    reference: chr 4
allele count: 1
allele frequency: 8.295175525914129e-6
allele num: 120552
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000391234
  ensembl transcript: ENST00000449493
  gene symbol: AMBN
  hgvsc: ENST00000449493.2:c.656A>G
  hgvsp: ENSP00000391234.2:p.Gln219Arg
  variant of: http://identifiers.org/hgnc/452
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000313809
  ensembl transcript: ENST00000322937
  gene symbol: AMBN
  hgvsc: ENST00000322937.6:c.701A>G
  hgvsp: ENSP00000313809.6:p.Gln234Arg
  variant of: http://identifiers.org/hgnc/452
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3409
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.5e0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.5e0
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
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genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 140
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gln234Arg
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 6.064281382656155e-5
  allele num: 16490
  num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP

4-71469041-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71469041
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71469041
    reference: chr 4
allele count: 0
allele frequency: 0.0e0
allele num: 120320
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000313809
  ensembl transcript: ENST00000322937
  gene symbol: AMBN
  hgvsc: ENST00000322937.6:c.708+5G>A
  variant of: http://identifiers.org/hgnc/452
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000391234
  ensembl transcript: ENST00000449493
  gene symbol: AMBN
  hgvsc: ENST00000449493.2:c.663+5G>A
  variant of: http://identifiers.org/hgnc/452
canonical: true
consequence: splice region
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18418
  bin: 2.75e1
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genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1790
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 5.75e1
  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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  bin: 4.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 325
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  variant carriers: 0
hgvs: c.708+5G>A
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 902
  num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

4-71469041-G-GT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71469041
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71469042
    reference: chr 4
allele count: 6
allele frequency: 4.986702127659574e-5
allele num: 120320
alternate allele: GT
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000313809
  ensembl transcript: ENST00000322937
  gene symbol: AMBN
  hgvsc: ENST00000322937.6:c.708+13dupT
  variant of: http://identifiers.org/hgnc/452
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000391234
  ensembl transcript: ENST00000449493
  gene symbol: AMBN
  hgvsc: ENST00000449493.2:c.663+13dupT
  variant of: http://identifiers.org/hgnc/452
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 526
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
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  bin: 9.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 541
  bin: 8.75e1
  variant carriers: 0
hgvs: c.708+13dupT
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 6
  allele frequency: 9.059885845438347e-5
  allele num: 66226
  num of homozygotes: 0
population: Other
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD

4-71469057-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71469057
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71469057
    reference: chr 4
allele count: 1
allele frequency: 8.295175525914129e-6
allele num: 120552
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000313809
  ensembl transcript: ENST00000322937
  gene symbol: AMBN
  hgvsc: ENST00000322937.6:c.708+21C>T
  variant of: http://identifiers.org/hgnc/452
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000391234
  ensembl transcript: ENST00000449493
  gene symbol: AMBN
  hgvsc: ENST00000449493.2:c.663+21C>T
  variant of: http://identifiers.org/hgnc/452
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18866
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.75e1
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  bin: 5.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6978
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 785
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11510
  num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD

4-71469059-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71469059
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71469059
    reference: chr 4
allele count: 1
allele frequency: 8.29531314807134e-6
allele num: 120550
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000313809
  ensembl transcript: ENST00000322937
  gene symbol: AMBN
  hgvsc: ENST00000322937.6:c.708+23T>C
  variant of: http://identifiers.org/hgnc/452
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000391234
  ensembl transcript: ENST00000449493
  gene symbol: AMBN
  hgvsc: ENST00000449493.2:c.663+23T>C
  variant of: http://identifiers.org/hgnc/452
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.25e1
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genotype depth: GenotypeDepth
  all individuals: 3398
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 1916
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  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8520
  num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

4-71469064-GT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71469064
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71469063
    reference: chr 4
allele count: 1
allele frequency: 8.297240337863626e-6
allele num: 120522
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000313809
  ensembl transcript: ENST00000322937
  gene symbol: AMBN
  hgvsc: ENST00000322937.6:c.708+31delT
  variant of: http://identifiers.org/hgnc/452
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000391234
  ensembl transcript: ENST00000449493
  gene symbol: AMBN
  hgvsc: ENST00000449493.2:c.663+31delT
  variant of: http://identifiers.org/hgnc/452
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11510
  num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: GT
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

4-71469066-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71469066
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71469066
    reference: chr 4
allele count: 1
allele frequency: 8.295175525914129e-6
allele num: 120552
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000391234
  ensembl transcript: ENST00000449493
  gene symbol: AMBN
  hgvsc: ENST00000449493.2:c.663+30T>C
  variant of: http://identifiers.org/hgnc/452
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000313809
  ensembl transcript: ENST00000322937
  gene symbol: AMBN
  hgvsc: ENST00000322937.6:c.708+30T>C
  variant of: http://identifiers.org/hgnc/452
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.506704836522525e-5
  allele num: 66370
  num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD
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site quality: BaseQRankSum

4-71469067-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71469067
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71469066
    reference: chr 4
allele count: 1
allele frequency: 8.29462508294625e-6
allele num: 120560
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000313809
  ensembl transcript: ENST00000322937
  gene symbol: AMBN
  hgvsc: ENST00000322937.6:c.708+32delG
  variant of: http://identifiers.org/hgnc/452
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000391234
  ensembl transcript: ENST00000449493
  gene symbol: AMBN
  hgvsc: ENST00000449493.2:c.663+32delG
  variant of: http://identifiers.org/hgnc/452
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9755
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.506568639267205e-5
  allele num: 66376
  num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: TG
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

4-71469074-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71469074
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71469074
    reference: chr 4
allele count: 2
allele frequency: 1.659227795384028e-5
allele num: 120538
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000391234
  ensembl transcript: ENST00000449493
  gene symbol: AMBN
  hgvsc: ENST00000449493.2:c.663+38T>C
  variant of: http://identifiers.org/hgnc/452
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000313809
  ensembl transcript: ENST00000322937
  gene symbol: AMBN
  hgvsc: ENST00000322937.6:c.708+38T>C
  variant of: http://identifiers.org/hgnc/452
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22277
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9714
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18848
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3378
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1252
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 40603
  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1871
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 783
  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 488
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 532
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 3863
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 336
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 279
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 1726
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6894
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10164
  num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD

4-71469081-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71469081
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71469081
    reference: chr 4
allele count: 1
allele frequency: 8.294074713025015e-6
allele num: 120568
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000313809
  ensembl transcript: ENST00000322937
  gene symbol: AMBN
  hgvsc: ENST00000322937.6:c.708+45A>G
  variant of: http://identifiers.org/hgnc/452
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000391234
  ensembl transcript: ENST00000449493
  gene symbol: AMBN
  hgvsc: ENST00000449493.2:c.663+45A>G
  variant of: http://identifiers.org/hgnc/452
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9735
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
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genotype depth: GenotypeDepth
  all individuals: 18911
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22316
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1248
  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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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 300
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 3862
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 450
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.506296318611797e-5
  allele num: 66388
  num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff

4-71469094-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71469094
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71469094
    reference: chr 4
allele count: 1
allele frequency: 8.2917364554485e-6
allele num: 120602
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000391234
  ensembl transcript: ENST00000449493
  gene symbol: AMBN
  hgvsc: ENST00000449493.2:c.664-39G>A
  variant of: http://identifiers.org/hgnc/452
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000313809
  ensembl transcript: ENST00000322937
  gene symbol: AMBN
  hgvsc: ENST00000322937.6:c.709-39G>A
  variant of: http://identifiers.org/hgnc/452
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.25e1
  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
  all individuals: 9840
  bin: 3.25e1
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genotype depth: GenotypeDepth
  all individuals: 505
  bin: 5.25e1
  variant carriers: 1
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: 4.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 3384
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3857
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11528
  num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: South Asian
population: European (Finnish)
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

4-71469094-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71469094
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71469094
    reference: chr 4
allele count: 1
allele frequency: 8.2917364554485e-6
allele num: 120602
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000391234
  ensembl transcript: ENST00000449493
  gene symbol: AMBN
  hgvsc: ENST00000449493.2:c.664-39G>T
  variant of: http://identifiers.org/hgnc/452
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000313809
  ensembl transcript: ENST00000322937
  gene symbol: AMBN
  hgvsc: ENST00000322937.6:c.709-39G>T
  variant of: http://identifiers.org/hgnc/452
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19194
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
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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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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3384
  bin: 3.75e1
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genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 782
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  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6580
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

4-71469096-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71469096
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71469096
    reference: chr 4
allele count: 4
allele frequency: 3.315814778586468e-5
allele num: 120634
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000391234
  ensembl transcript: ENST00000449493
  gene symbol: AMBN
  hgvsc: ENST00000449493.2:c.664-37A>G
  variant of: http://identifiers.org/hgnc/452
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000313809
  ensembl transcript: ENST00000322937
  gene symbol: AMBN
  hgvsc: ENST00000322937.6:c.709-37A>G
  variant of: http://identifiers.org/hgnc/452
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22467
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9831
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 489
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 3859
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42100
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 530
  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10168
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ

4-71469108-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71469108
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71469108
    reference: chr 4
allele count: 1
allele frequency: 8.286514526259965e-6
allele num: 120678
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000391234
  ensembl transcript: ENST00000449493
  gene symbol: AMBN
  hgvsc: ENST00000449493.2:c.664-25G>A
  variant of: http://identifiers.org/hgnc/452
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000313809
  ensembl transcript: ENST00000322937
  gene symbol: AMBN
  hgvsc: ENST00000322937.6:c.709-25G>A
  variant of: http://identifiers.org/hgnc/452
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3374
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 9.75e1
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genotype depth: GenotypeDepth
  all individuals: 19532
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
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genotype depth: GenotypeDepth
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  bin: 1.25e1
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genotype depth: GenotypeDepth
  all individuals: 284
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  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: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9853
  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3856
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 432
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16498
  num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

4-71469110-GATA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71469110
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71469107
    reference: chr 4
allele count: 2
allele frequency: 1.657302905251993e-5
allele num: 120678
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000313809
  ensembl transcript: ENST00000322937
  gene symbol: AMBN
  hgvsc: ENST00000322937.6:c.709-20_709-18delAAT
  variant of: http://identifiers.org/hgnc/452
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000391234
  ensembl transcript: ENST00000449493
  gene symbol: AMBN
  hgvsc: ENST00000449493.2:c.664-20_664-18delAAT
  variant of: http://identifiers.org/hgnc/452
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19568
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 3366
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1667
  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 904
  num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
reference allele: GATA
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum

http://identifiers.org/exac.variant/4-71469111-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71469111
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71469111
    reference: chr 4
allele count: 1
allele frequency: 8.286377195889957e-6
allele num: 120680
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000391234
  ensembl transcript: ENST00000449493
  gene symbol: AMBN
  hgvsc: ENST00000449493.2:c.664-22A>C
  variant of: http://identifiers.org/hgnc/452
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000313809
  ensembl transcript: ENST00000322937
  gene symbol: AMBN
  hgvsc: ENST00000322937.6:c.709-22A>C
  variant of: http://identifiers.org/hgnc/452
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11528
  num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD

4-71469128-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71469128
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71469128
    reference: chr 4
allele count: 3
allele frequency: 2.485295335929086e-5
allele num: 120710
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000313809
  ensembl transcript: ENST00000322937
  gene symbol: AMBN
  hgvsc: ENST00000322937.6:c.709-5T>C
  variant of: http://identifiers.org/hgnc/452
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000391234
  ensembl transcript: ENST00000449493
  gene symbol: AMBN
  hgvsc: ENST00000449493.2:c.664-5T>C
  variant of: http://identifiers.org/hgnc/452
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19701
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
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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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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 530
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  variant carriers: 0
hgvs: c.709-5T>C
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 1
  allele frequency: 8.667013347200555e-5
  allele num: 11538
  num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: QD

4-71469146-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71469146
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71469146
    reference: chr 4
allele count: 1
allele frequency: 8.287063893262618e-6
allele num: 120670
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000391234
  ensembl transcript: ENST00000449493
  gene symbol: AMBN
  hgvsc: ENST00000449493.2:c.677T>C
  hgvsp: ENSP00000391234.2:p.Met226Thr
  variant of: http://identifiers.org/hgnc/452
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000313809
  ensembl transcript: ENST00000322937
  gene symbol: AMBN
  hgvsc: ENST00000322937.6:c.722T>C
  hgvsp: ENSP00000313809.6:p.Met241Thr
  variant of: http://identifiers.org/hgnc/452
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3365
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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hgvs: p.Met241Thr
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 6.06134076857801e-5
  allele num: 16498
  num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Latino
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum

4-71469148-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71469148
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71469148
    reference: chr 4
allele count: 3
allele frequency: 2.486283999933699e-5
allele num: 120662
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000391234
  ensembl transcript: ENST00000449493
  gene symbol: AMBN
  hgvsc: ENST00000449493.2:c.679T>C
  hgvsp: ENST00000449493.2:c.679T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/452
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000313809
  ensembl transcript: ENST00000322937
  gene symbol: AMBN
  hgvsc: ENST00000322937.6:c.724T>C
  hgvsp: ENST00000322937.6:c.724T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/452
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Leu242Leu
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8556
  num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

4-71469149-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71469149
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71469149
    reference: chr 4
allele count: 1
allele frequency: 8.288162845823595e-6
allele num: 120654
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000391234
  ensembl transcript: ENST00000449493
  gene symbol: AMBN
  hgvsc: ENST00000449493.2:c.680T>G
  hgvsp: ENSP00000391234.2:p.Leu227Trp
  variant of: http://identifiers.org/hgnc/452
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000313809
  ensembl transcript: ENST00000322937
  gene symbol: AMBN
  hgvsc: ENST00000322937.6:c.725T>G
  hgvsp: ENSP00000313809.6:p.Leu242Trp
  variant of: http://identifiers.org/hgnc/452
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 53
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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hgvs: p.Leu242Trp
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66420
  num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: VQSLOD
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4-71469153-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71469153
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71469153
    reference: chr 4
allele count: 8
allele frequency: 6.631079871357051e-5
allele num: 120644
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000391234
  ensembl transcript: ENST00000449493
  gene symbol: AMBN
  hgvsc: ENST00000449493.2:c.684C>T
  hgvsp: ENST00000449493.2:c.684C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/452
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178522
  ensembl protein: ENSP00000313809
  ensembl transcript: ENST00000322937
  gene symbol: AMBN
  hgvsc: ENST00000322937.6:c.729C>T
  hgvsp: ENST00000322937.6:c.729C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/452
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43138
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 780
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3859
  bin: 9.75e1
  variant carriers: 6
hgvs: p.Tyr243Tyr
num of homozygotes: 1
population: East Asian
  type: Population
  allele count: 3
  allele frequency: 3.506311360448808e-4
  allele num: 8556
  num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5946
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8846
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59594
num of homozygotes: 0

South Asian
type: Population
allele count: 10
allele frequency: 6.3500127000254e-4
allele num: 15748
num of homozygotes: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7828
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.777593e6

FS
type: SiteQuality
SIO_000300: 7.391e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.6e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 8.970000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.3e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -9.49e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.88e-1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7828
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8846
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11206
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5946
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15748
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.777593e6

MQRankSum
type: SiteQuality
SIO_000300: 1.88e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -9.49e-1

FS
type: SiteQuality
SIO_000300: 7.391e0

QD
type: SiteQuality
SIO_000300: 8.970000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.6e-2

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8868
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11208
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7842
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.675827858962328e-5
allele num: 59672
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5970
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.885e1

FS
type: SiteQuality
SIO_000300: 6.663e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

MQRankSum
type: SiteQuality
SIO_000300: -5.73e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.752e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.432e0

DP
type: SiteQuality
SIO_000300: 1.774255e6

QD
type: SiteQuality
SIO_000300: 1.012e1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11212
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.674200569228194e-5
allele num: 59730
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15780
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8880
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5974
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -2.677e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.54e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.296e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.09e-1

DP
type: SiteQuality
SIO_000300: 1.756479e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

FS
type: SiteQuality
SIO_000300: 7.652e0

MQRankSum
type: SiteQuality
SIO_000300: -4.25e-1

QD
type: SiteQuality
SIO_000300: 9.16e0

East Asian
type: Population
allele count: 14
allele frequency: 1.78343949044586e-3
allele num: 7850
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11220
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59674
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5980
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15774
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.15e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

FS
type: SiteQuality
SIO_000300: 5.17e-1

DP
type: SiteQuality
SIO_000300: 1.752688e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.11e-1

QD
type: SiteQuality
SIO_000300: 1.198e1

VQSLOD
type: SiteQuality
SIO_000300: 2.74e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.899999999999999e-1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7852
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11218
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5980
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59652
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.127141568981064e-4
allele num: 8872
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.472e1

VQSLOD
type: SiteQuality
SIO_000300: -1.116e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.95e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.748947e6

QD
type: SiteQuality
SIO_000300: 4.78e0

MQRankSum
type: SiteQuality
SIO_000300: 4.66e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.87e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.43e-1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15652
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8702
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7578
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5878
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11106
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.006e1

DP
type: SiteQuality
SIO_000300: 1.723483e6

VQSLOD
type: SiteQuality
SIO_000300: 6.88e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.14e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.51e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.364e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.2e-1

South Asian
type: Population
allele count: 1778
allele frequency: 1.135957066189624e-1
allele num: 15652
num of homozygotes: 96

Latino
type: Population
allele count: 771
allele frequency: 6.942193408968125e-2
allele num: 11106
num of homozygotes: 14

Other
type: Population
allele count: 90
allele frequency: 1.073985680190931e-1
allele num: 838
num of homozygotes: 4

East Asian
type: Population
allele count: 969
allele frequency: 1.278701504354711e-1
allele num: 7578
num of homozygotes: 55

European (Non-Finnish)
type: Population
allele count: 4202
allele frequency: 7.231611193336317e-2
allele num: 58106
num of homozygotes: 147

African
type: Population
allele count: 1337
allele frequency: 1.536428407262698e-1
allele num: 8702
num of homozygotes: 99

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.723483e6

MQRankSum
type: SiteQuality
SIO_000300: 3.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.14e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.2e-1

QD
type: SiteQuality
SIO_000300: 1.364e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.2e-2

MQ
type: SiteQuality
SIO_000300: 6.006e1

VQSLOD
type: SiteQuality
SIO_000300: 6.88e0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6018
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15694
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8766
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7680
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.389e1

VQSLOD
type: SiteQuality
SIO_000300: -1.963e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -9.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.3e-1

DP
type: SiteQuality
SIO_000300: 1.731318e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.45e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.099e0

MQ
type: SiteQuality
SIO_000300: 5.82e1

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

African
type: Population
allele count: 1
allele frequency: 1.031991744066047e-4
allele num: 9690
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65634
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16412
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8476
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.423e1

VQSLOD
type: SiteQuality
SIO_000300: 2.07e0

FS
type: SiteQuality
SIO_000300: 2.702e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.196e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.33e-1

DP
type: SiteQuality
SIO_000300: 2.282994e6

MQRankSum
type: SiteQuality
SIO_000300: 4.24e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

MQ
type: SiteQuality
SIO_000300: 6.054e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.16e-1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9700
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16402
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8476
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -7.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.57e0

VQSLOD
type: SiteQuality
SIO_000300: -9.947e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.52e-1

QD
type: SiteQuality
SIO_000300: 1.428e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.15e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.0748e1

DP
type: SiteQuality
SIO_000300: 2.284085e6

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9698
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8476
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65664
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.740947075208914e-4
allele num: 11488
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16398
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -8.236e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.181e0

DP
type: SiteQuality
SIO_000300: 2.28883e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.001e0

MQRankSum
type: SiteQuality
SIO_000300: 6.43e-1

FS
type: SiteQuality
SIO_000300: 7.105e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

QD
type: SiteQuality
SIO_000300: 1.874e1

East Asian
type: Population
allele count: 1
allele frequency: 1.181195369714151e-4
allele num: 8466
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.740644038294169e-4
allele num: 11490
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16402
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9700
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65692
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

FS
type: SiteQuality
SIO_000300: 1.313e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.73e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.31e-1

QD
type: SiteQuality
SIO_000300: 1.439e1

DP
type: SiteQuality
SIO_000300: 2.289903e6

MQ
type: SiteQuality
SIO_000300: 5.952e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.78e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.34e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.08e-1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9682
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.049431281066081e-5
allele num: 65586
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8460
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 3.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.138e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

MQ
type: SiteQuality
SIO_000300: 6.063e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.51e-1

FS
type: SiteQuality
SIO_000300: 1.1091e1

QD
type: SiteQuality
SIO_000300: 1.056e1

VQSLOD
type: SiteQuality
SIO_000300: 7.07e-1

DP
type: SiteQuality
SIO_000300: 2.295923e6

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11506
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8500
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65768
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.01e-1

QD
type: SiteQuality
SIO_000300: 1.646e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.300131e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.4e-3

VQSLOD
type: SiteQuality
SIO_000300: -3.075e-1

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.029e1

European (Finnish)
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Latino
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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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QD
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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FS
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BaseQRankSum
type: SiteQuality
SIO_000300: 7.81e-1

VQSLOD
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MQ
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DP
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ReadPosRankSum
type: SiteQuality
SIO_000300: 3.62e-1

East Asian
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Latino
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allele num: 11502
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Other
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African
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South Asian
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European (Non-Finnish)
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QD
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MQRankSum
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ReadPosRankSum
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MQ
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BaseQRankSum
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DP
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SIO_000300: 2.299876e6

InbreedingCoeff
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SIO_000300: 2.6e-3

FS
type: SiteQuality
SIO_000300: 9.96e-1

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.8e-1

East Asian
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allele num: 8512
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Latino
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South Asian
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allele frequency: 1.107729762629337e-2
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European (Non-Finnish)
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European (Finnish)
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allele count: 0
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Other
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InbreedingCoeff
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
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FS
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
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DP
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SIO_000300: 2.315282e6

European (Finnish)
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African
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South Asian
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Other
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East Asian
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European (Non-Finnish)
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allele num: 66032
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FS
type: SiteQuality
SIO_000300: 1.976e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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DP
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ClippingRankSum
type: SiteQuality
SIO_000300: 7.77e-1

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 4.06e0

VQSLOD
type: SiteQuality
SIO_000300: 1.11e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.54e-1

Latino
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allele num: 11520
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African
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allele num: 9748
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European (Finnish)
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allele count: 0
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South Asian
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Other
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European (Non-Finnish)
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FS
type: SiteQuality
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QD
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ReadPosRankSum
type: SiteQuality
SIO_000300: 3.34e-1

VQSLOD
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.799e0

DP
type: SiteQuality
SIO_000300: 2.326727e6

Latino
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allele num: 11520
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South Asian
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European (Finnish)
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African
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East Asian
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Other
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QD
type: SiteQuality
SIO_000300: 8.67e0

ReadPosRankSum
type: SiteQuality
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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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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

African
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allele count: 0
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European (Non-Finnish)
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allele frequency: 1.513592056668887e-5
allele num: 66068
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East Asian
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Latino
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Other
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South Asian
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DP
type: SiteQuality
SIO_000300: 2.326727e6

MQ
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
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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InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.58e-1

African
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allele count: 0
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allele num: 9762
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Latino
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allele count: 0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.512493193780628e-5
allele num: 66116
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European (Finnish)
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allele count: 0
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East Asian
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DP
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FS
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -8.3e-2

South Asian
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East Asian
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Latino
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allele count: 0
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allele num: 11520
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.512081531436175e-5
allele num: 66134
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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ReadPosRankSum
type: SiteQuality
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MQ
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
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QD
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VQSLOD
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ClippingRankSum
type: SiteQuality
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DP
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South Asian
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Other
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European (Non-Finnish)
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East Asian
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European (Finnish)
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African
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InbreedingCoeff
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DP
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BaseQRankSum
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FS
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VQSLOD
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MQRankSum
type: SiteQuality
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ClippingRankSum
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QD
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ReadPosRankSum
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MQ
type: SiteQuality
SIO_000300: 5.961e1

South Asian
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Other
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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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MQRankSum
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BaseQRankSum
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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FS
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ReadPosRankSum
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QD
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DP
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VQSLOD
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Latino
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European (Non-Finnish)
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East Asian
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South Asian
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Other
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European (Finnish)
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MQRankSum
type: SiteQuality
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VQSLOD
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DP
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InbreedingCoeff
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MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
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QD
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ClippingRankSum
type: SiteQuality
SIO_000300: 6.7e-2

South Asian
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Latino
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East Asian
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African
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European (Finnish)
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Other
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
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DP
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
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BaseQRankSum
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SIO_000300: 1.0e0

South Asian
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allele num: 16490
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Other
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Latino
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African
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European (Non-Finnish)
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European (Finnish)
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VQSLOD
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FS
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 2.42e-1

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

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66346
num of homozygotes: 0

African
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East Asian
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allele count: 1
allele frequency: 1.165501165501166e-4
allele num: 8580
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
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BaseQRankSum
type: SiteQuality
SIO_000300: 9.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

QD
type: SiteQuality
SIO_000300: 1.263e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.5e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.53e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.32e-1

FS
type: SiteQuality
SIO_000300: 8.45e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.336775e6

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9810
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8568
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507977199384745e-5
allele num: 66314
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16432
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MQRankSum
type: SiteQuality
SIO_000300: 5.69e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 7.14e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.09e0

FS
type: SiteQuality
SIO_000300: 2.01e0

QD
type: SiteQuality
SIO_000300: 1.049e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.332171e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.91e-1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66302
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East Asian
type: Population
allele count: 1
allele frequency: 1.166316771635176e-4
allele num: 8574
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16434
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
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MQRankSum
type: SiteQuality
SIO_000300: 4.1e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.069e1

MQ
type: SiteQuality
SIO_000300: 5.974e1

DP
type: SiteQuality
SIO_000300: 2.330515e6

BaseQRankSum
type: SiteQuality
SIO_000300: -9.84e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.81e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.008e0

VQSLOD
type: SiteQuality
SIO_000300: 3.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16432
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8576
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9810
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European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.524750384603782e-5
allele num: 66302
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.492e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.947e0

FS
type: SiteQuality
SIO_000300: 5.8e0

MQRankSum
type: SiteQuality
SIO_000300: -5.26e-1

DP
type: SiteQuality
SIO_000300: 2.330604e6

MQ
type: SiteQuality
SIO_000300: 5.963e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.95e-1

QD
type: SiteQuality
SIO_000300: 1.483e1

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508978421608571e-5
allele num: 66270
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
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DP
type: SiteQuality
SIO_000300: 2.321695e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.04e0

VQSLOD
type: SiteQuality
SIO_000300: 5.5e-1

FS
type: SiteQuality
SIO_000300: 6.25e-1

MQ
type: SiteQuality
SIO_000300: 5.943e1

MQRankSum
type: SiteQuality
SIO_000300: -3.28e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

QD
type: SiteQuality
SIO_000300: 1.074e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.93e-1

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

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.035913686434284e-5
allele num: 66270
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16402
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ClippingRankSum
type: SiteQuality
SIO_000300: 3.28e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.05e0

QD
type: SiteQuality
SIO_000300: 1.294e1

MQRankSum
type: SiteQuality
SIO_000300: 4.99e-1

FS
type: SiteQuality
SIO_000300: 6.23e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.9e-2

DP
type: SiteQuality
SIO_000300: 2.32006e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.008e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16386
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9792
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 3.04e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.17e0

QD
type: SiteQuality
SIO_000300: 1.451e1

FS
type: SiteQuality
SIO_000300: 7.114e0

DP
type: SiteQuality
SIO_000300: 2.309552e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.97e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.830000000000001e-1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66180
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
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allele num: 8562
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MQRankSum
type: SiteQuality
SIO_000300: 3.3e-2

FS
type: SiteQuality
SIO_000300: 1.1254e1

VQSLOD
type: SiteQuality
SIO_000300: 6.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.27e0

MQ
type: SiteQuality
SIO_000300: 6.015e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

QD
type: SiteQuality
SIO_000300: 8.859999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.146e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.29e-1

DP
type: SiteQuality
SIO_000300: 2.302018e6

East Asian
type: Population
allele count: 1
allele frequency: 1.16767865483419e-4
allele num: 8564
num of homozygotes: 0

Other
type: Population
allele count: 0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9774
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16324
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66148
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MQ
type: SiteQuality
SIO_000300: 5.792e1

MQRankSum
type: SiteQuality
SIO_000300: 1.6e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.374e0

QD
type: SiteQuality
SIO_000300: 1.257e1

DP
type: SiteQuality
SIO_000300: 2.284215e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.49e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.871e0

VQSLOD
type: SiteQuality
SIO_000300: -2.989e0

South Asian
type: Population
allele count: 1
allele frequency: 6.13195977434388e-5
allele num: 16308
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66120
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.903e1

MQRankSum
type: SiteQuality
SIO_000300: -4.3e-1

DP
type: SiteQuality
SIO_000300: 2.276563e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.199e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 5.56e-1

QD
type: SiteQuality
SIO_000300: 1.432e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.1e-2

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60888
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15984
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6372
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7980
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Latino
type: Population
allele count: 2
allele frequency: 1.843657817109145e-4
allele num: 10848
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Other
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allele frequency: 0.0e0
allele num: 860
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.09e0

FS
type: SiteQuality
SIO_000300: 6.454e0

MQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.557e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.82e-1

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -6.75e-1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61074
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 868
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6374
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16010
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
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allele num: 7996
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InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

FS
type: SiteQuality
SIO_000300: 7.693e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.0e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -6.34e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.44e-1

QD
type: SiteQuality
SIO_000300: 1.822e1

VQSLOD
type: SiteQuality
SIO_000300: -8.102e-1

DP
type: SiteQuality
SIO_000300: 1.499583e6

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 1
allele frequency: 6.248437890527369e-5
allele num: 16004
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61058
num of homozygotes: 0

East Asian
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allele count: 0
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African
type: Population
allele count: 0
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Other
type: Population
allele count: 0
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allele num: 866
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.51e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.23e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 8.87e-1

DP
type: SiteQuality
SIO_000300: 1.505767e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.01e-1

QD
type: SiteQuality
SIO_000300: 1.548e1

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9922
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6396
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.617285547936344e-5
allele num: 61832
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.599777e6

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.896e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.137e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 9.1e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.99e-1

QD
type: SiteQuality
SIO_000300: 7.25e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.62e-1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.606064499550302e-5
allele num: 62264
num of homozygotes: 0

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

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

African
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East Asian
type: Population
allele count: 0
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Latino
type: Population
allele count: 0
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allele num: 11102
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ReadPosRankSum
type: SiteQuality
SIO_000300: 4.17e-1

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

DP
type: SiteQuality
SIO_000300: 1.626444e6

QD
type: SiteQuality
SIO_000300: 3.8e0

MQRankSum
type: SiteQuality
SIO_000300: 6.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.39e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 8.24e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16308
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.125097659301853e-5
allele num: 63998
num of homozygotes: 0

Other
type: Population
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Latino
type: Population
allele count: 0
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African
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allele count: 0
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East Asian
type: Population
allele count: 0
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ReadPosRankSum
type: SiteQuality
SIO_000300: 8.49e-1

DP
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.649999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.251e0

QD
type: SiteQuality
SIO_000300: 6.76e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.07e-1

MQ
type: SiteQuality
SIO_000300: 5.928e1

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65054
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.971608832807571e-4
allele num: 10144
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16400
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.971e1

QD
type: SiteQuality
SIO_000300: 1.549e1

FS
type: SiteQuality
SIO_000300: 4.957e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.05e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.57e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.79e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.7e0

DP
type: SiteQuality
SIO_000300: 1.729495e6

Latino
type: Population
allele count: 889
allele frequency: 7.781862745098039e-2
allele num: 11424
num of homozygotes: 46

European (Finnish)
type: Population
allele count: 1298
allele frequency: 1.986531986531987e-1
allele num: 6534
num of homozygotes: 131

Other
type: Population
allele count: 114
allele frequency: 1.272321428571428e-1
allele num: 896
num of homozygotes: 9

South Asian
type: Population
allele count: 1117
allele frequency: 6.793577423671086e-2
allele num: 16442
num of homozygotes: 45

European (Non-Finnish)
type: Population
allele count: 14664
allele frequency: 2.22891016871865e-1
allele num: 65790
num of homozygotes: 1615

East Asian
type: Population
allele count: 66
allele frequency: 7.792207792207792e-3
allele num: 8470
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.625e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.31e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.1e-1

FS
type: SiteQuality
SIO_000300: 1.182e0

DP
type: SiteQuality
SIO_000300: 2.062506e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.22e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.49e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.65e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8478
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516530178950561e-5
allele num: 65940
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.15e-1

DP
type: SiteQuality
SIO_000300: 1.726969e6

VQSLOD
type: SiteQuality
SIO_000300: 7.22e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

QD
type: SiteQuality
SIO_000300: 1.554e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.42e0

FS
type: SiteQuality
SIO_000300: 4.196e0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11448
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16458
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.801999607920016e-5
allele num: 10202
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66024
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8480
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.3e0

QD
type: SiteQuality
SIO_000300: 3.64e0

MQRankSum
type: SiteQuality
SIO_000300: 8.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.669999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.673e0

DP
type: SiteQuality
SIO_000300: 1.73043e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.31e-1

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.076810889645114e-5
allele num: 16456
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.513271390091099e-5
allele num: 66082
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.732099196646873e-5
allele num: 11452
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10210
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.67e0

VQSLOD
type: SiteQuality
SIO_000300: 2.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.732639e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.69e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.35e-1

FS
type: SiteQuality
SIO_000300: 8.51e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.74e-1

QD
type: SiteQuality
SIO_000300: 1.94e1

European (Non-Finnish)
type: Population
allele count: 32
allele frequency: 4.841296257072831e-4
allele num: 66098
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.075334143377886e-5
allele num: 16460
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.798157946306095e-5
allele num: 10206
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.11e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.23e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.7e-2

DP
type: SiteQuality
SIO_000300: 1.734416e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.25e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

FS
type: SiteQuality
SIO_000300: 5.48e-1

QD
type: SiteQuality
SIO_000300: 1.579e1

Other
type: Population
allele count: 9
allele frequency: 9.95575221238938e-3
allele num: 904
num of homozygotes: 0

South Asian
type: Population
allele count: 177
allele frequency: 1.074029126213592e-2
allele num: 16480
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 1543
allele frequency: 2.32708955448979e-2
allele num: 66306
num of homozygotes: 19

African
type: Population
allele count: 36
allele frequency: 3.527336860670194e-3
allele num: 10206
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 4.703668861712136e-4
allele num: 8504
num of homozygotes: 0

Latino
type: Population
allele count: 67
allele frequency: 5.832172701949861e-3
allele num: 11488
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.779267e6

VQSLOD
type: SiteQuality
SIO_000300: 5.99e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.699999999999999e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.279e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.16e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.33e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.93e-1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10208
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8510
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.585e0

FS
type: SiteQuality
SIO_000300: 3.928e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.590000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.753e0

VQSLOD
type: SiteQuality
SIO_000300: -1.175e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.48e-1

QD
type: SiteQuality
SIO_000300: 8.640000000000001e0

DP
type: SiteQuality
SIO_000300: 1.729042e6

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.20558184393743e-4
allele num: 66358
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.697164724299878e-5
allele num: 11498
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10200
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8512
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.28e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.28e0

FS
type: SiteQuality
SIO_000300: 5.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.939e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.13e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

DP
type: SiteQuality
SIO_000300: 1.731141e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.18e-2

QD
type: SiteQuality
SIO_000300: 1.017e1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50665943470138e-5
allele num: 66372
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8510
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -7.23e-1

DP
type: SiteQuality
SIO_000300: 1.729944e6

MQ
type: SiteQuality
SIO_000300: 5.908e1

MQRankSum
type: SiteQuality
SIO_000300: 4.63e-1

QD
type: SiteQuality
SIO_000300: 1.181e1

VQSLOD
type: SiteQuality
SIO_000300: 1.42e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.25e0

FS
type: SiteQuality
SIO_000300: 2.864e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11502
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10202
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66370
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.08e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.0e-2

QD
type: SiteQuality
SIO_000300: 9.42e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.5e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 8.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 5.141e0

MQ
type: SiteQuality
SIO_000300: 5.93e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.25e-1

DP
type: SiteQuality
SIO_000300: 1.729348e6

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66226
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8502
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10164
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.07e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.05e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.86e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.63e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

QD
type: SiteQuality
SIO_000300: 6.08e0

DP
type: SiteQuality
SIO_000300: 1.736208e6

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10164
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8502
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.86e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.39e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.63e-1

DP
type: SiteQuality
SIO_000300: 1.736208e6

BaseQRankSum
type: SiteQuality
SIO_000300: -9.05e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.07e-1

QD
type: SiteQuality
SIO_000300: 6.08e0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50665943470138e-5
allele num: 66372
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.32e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.51e0

FS
type: SiteQuality
SIO_000300: 4.12e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

DP
type: SiteQuality
SIO_000300: 1.728437e6

MQRankSum
type: SiteQuality
SIO_000300: 2.88e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 8.48e-1

QD
type: SiteQuality
SIO_000300: 1.392e1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506614035616356e-5
allele num: 66374
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.525e0

VQSLOD
type: SiteQuality
SIO_000300: 2.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.89e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

QD
type: SiteQuality
SIO_000300: 1.303e1

DP
type: SiteQuality
SIO_000300: 1.727657e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.82e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e-1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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African
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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: 1
allele frequency: 1.507022725902707e-5
allele num: 66356
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South Asian
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Other
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.916e0

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.077e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.12e0

VQSLOD
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SIO_000300: 3.09e0

DP
type: SiteQuality
SIO_000300: 1.727415e6

QD
type: SiteQuality
SIO_000300: 1.149e1

East Asian
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allele num: 8524
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African
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allele num: 10174
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 904
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6574
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Latino
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allele num: 11514
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South Asian
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ClippingRankSum
type: SiteQuality
SIO_000300: -7.9e-1

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -4.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.0e0

Latino
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Other
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African
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East Asian
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allele num: 8522
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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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QD
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.925e1

FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.236e0

VQSLOD
type: SiteQuality
SIO_000300: 1.64e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.55e-1

DP
type: SiteQuality
SIO_000300: 1.72625e6

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6572
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East Asian
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allele num: 8518
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Latino
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allele num: 11516
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European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.013228071232712e-5
allele num: 66374
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Other
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South Asian
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MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -3.4e-2

DP
type: SiteQuality
SIO_000300: 1.726087e6

FS
type: SiteQuality
SIO_000300: 3.087e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.92e0

QD
type: SiteQuality
SIO_000300: 1.945e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.51e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.438e-1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
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East Asian
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African
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allele count: 0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
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South Asian
type: Population
allele count: 0
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allele num: 16490
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Other
type: Population
allele count: 0
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FS
type: SiteQuality
SIO_000300: 9.237e0

VQSLOD
type: SiteQuality
SIO_000300: -5.573e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -2.48e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.75e-1

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.727373e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506114826194349e-5
allele num: 66396
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East Asian
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allele count: 0
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African
type: Population
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Other
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allele num: 904
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6580
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

MQRankSum
type: SiteQuality
SIO_000300: 2.61e-1

DP
type: SiteQuality
SIO_000300: 1.733715e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

FS
type: SiteQuality
SIO_000300: 4.362e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.46e-1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66396
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
allele count: 0
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allele num: 11528
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Other
type: Population
allele count: 1
allele frequency: 1.106194690265487e-3
allele num: 904
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8530
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South Asian
type: Population
allele count: 0
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allele num: 16496
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ReadPosRankSum
type: SiteQuality
SIO_000300: 4.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

DP
type: SiteQuality
SIO_000300: 1.733715e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

FS
type: SiteQuality
SIO_000300: 4.362e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.36e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.86e0

QD
type: SiteQuality
SIO_000300: 1.438e1

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11528
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16496
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European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.022282445046673e-5
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Other
type: Population
allele count: 0
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East Asian
type: Population
allele count: 0
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allele num: 8538
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 6.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 6.71e-1

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 3.97e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

East Asian
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allele num: 8546
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.504936190705514e-5
allele num: 66448
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Other
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allele count: 0
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11530
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10168
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European (Finnish)
type: Population
allele count: 0
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ClippingRankSum
type: SiteQuality
SIO_000300: -7.47e-1

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.435e1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
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European (Non-Finnish)
type: Population
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allele frequency: 3.010053578953705e-5
allele num: 66444
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European (Finnish)
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allele count: 0
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East Asian
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allele count: 0
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African
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allele count: 0
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South Asian
type: Population
allele count: 0
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allele num: 16498
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QD
type: SiteQuality
SIO_000300: 1.954e1

MQ
type: SiteQuality
SIO_000300: 5.86e1

MQRankSum
type: SiteQuality
SIO_000300: -9.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.23e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.34e-1

FS
type: SiteQuality
SIO_000300: 1.948e0

DP
type: SiteQuality
SIO_000300: 1.738928e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.81e0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505026789476853e-5
allele num: 66444
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South Asian
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allele count: 0
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African
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allele count: 0
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East Asian
type: Population
allele count: 0
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Other
type: Population
allele count: 0
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -7.16e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.244e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.77e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.96e0

VQSLOD
type: SiteQuality
SIO_000300: 5.9e-2

African
type: Population
allele count: 2
allele frequency: 1.966568338249754e-4
allele num: 10170
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South Asian
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allele count: 0
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66450
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East Asian
type: Population
allele count: 0
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 904
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European (Finnish)
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allele count: 0
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 7.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.12e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.8e-2

FS
type: SiteQuality
SIO_000300: 5.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.741632e6

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.558e1

Other
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European (Non-Finnish)
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allele count: 0
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East Asian
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10144
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European (Finnish)
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allele count: 0
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Latino
type: Population
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MQ
type: SiteQuality
SIO_000300: 5.954e1

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

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 7.48e-1

FS
type: SiteQuality
SIO_000300: 1.247e0

DP
type: SiteQuality
SIO_000300: 1.741071e6

MQRankSum
type: SiteQuality
SIO_000300: 7.2e-1

African
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allele count: 1
allele frequency: 9.856100926473487e-5
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6592
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505479947007106e-5
allele num: 66424
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South Asian
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allele count: 0
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Latino
type: Population
allele count: 1
allele frequency: 8.662508662508663e-5
allele num: 11544
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Other
type: Population
allele count: 0
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FS
type: SiteQuality
SIO_000300: 9.350000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.15e-1

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.741136e6

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

MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.372e1

Other
type: Population
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African
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Latino
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East Asian
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allele count: 1
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South Asian
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allele count: 0
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European (Finnish)
type: Population
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BaseQRankSum
type: SiteQuality
SIO_000300: -7.62e-1

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.13e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.77e0

Other
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Latino
type: Population
allele count: 2
allele frequency: 1.732501732501733e-4
allele num: 11544
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European (Finnish)
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allele count: 0
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allele num: 6590
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European (Non-Finnish)
type: Population
allele count: 0
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African
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allele frequency: 1.97199763360284e-4
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South Asian
type: Population
allele count: 1
allele frequency: 6.062075654704171e-5
allele num: 16496
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DP
type: SiteQuality
SIO_000300: 1.740668e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.24e0