http://identifiers.org/exac.variant/1-216011477-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216011477
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216011477
    reference: chr 1
allele count: 2
allele frequency: 1.652046059044126e-5
allele num: 121062
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.9259-32T>G
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.9259-32T>G
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2038
  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 depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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
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num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16492
  num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD

1-216011482-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216011482
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216011482
    reference: chr 1
allele count: 4
allele frequency: 3.30611300294244e-5
allele num: 120988
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.9259-37A>C
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.9259-37A>C
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9595
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6602
  num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQ

1-216017594-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216017594
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216017594
    reference: chr 1
allele count: 1
allele frequency: 8.62857438693979e-6
allele num: 115894
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.9258+42T>A
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.9258+42T>A
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19501
  bin: 2.25e1
  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: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11074
  num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: DP

1-216017603-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216017603
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216017603
    reference: chr 1
allele count: 3
allele frequency: 2.574311800645294e-5
allele num: 116536
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.9258+33T>C
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.9258+33T>C
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2144
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: South Asian
  type: Population
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  allele frequency: 0.0e0
  allele num: 16048
  num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

1-216017608-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216017608
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216017608
    reference: chr 1
allele count: 1
allele frequency: 8.54496359845507e-6
allele num: 117028
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.9258+28G>A
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.9258+28G>A
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1816
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genotype depth: GenotypeDepth
  all individuals: 825
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 266
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  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 880
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff

1-216017621-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216017621
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216017621
    reference: chr 1
allele count: 104
allele frequency: 8.754208754208755e-4
allele num: 118800
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.9258+15T>C
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.9258+15T>C
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
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  variant carriers: 12
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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: 240
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genotype depth: GenotypeDepth
  all individuals: 312
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6552
  num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP

1-216017626-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216017626
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216017626
    reference: chr 1
allele count: 2
allele frequency: 1.678077594307961e-5
allele num: 119184
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.9258+10T>C
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.9258+10T>C
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6556
  num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ

1-216017631-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216017631
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216017631
    reference: chr 1
allele count: 1
allele frequency: 8.368480953337351e-6
allele num: 119496
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.9258+5G>C
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.9258+5G>C
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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.9258+5G>C
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10112
  num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

1-216017635-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216017635
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216017635
    reference: chr 1
allele count: 1
allele frequency: 8.350172848577966e-6
allele num: 119758
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.9258+1G>A
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.9258+1G>A
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 377
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2110
  bin: 7.25e1
  variant carriers: 0
hgvs: c.9258+1G>A
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 896
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

1-216017646-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216017646
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216017646
    reference: chr 1
allele count: 10
allele frequency: 8.328752519447637e-5
allele num: 120066
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.9248A>T
  hgvsp: ENSP00000305941.3:p.Tyr3083Phe
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.9248A>T
  hgvsp: ENSP00000355910.2:p.Tyr3083Phe
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 807
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  variant carriers: 0
hgvs: p.Tyr3083Phe
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6576
  num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: QD

1-216017650-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216017650
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216017650
    reference: chr 1
allele count: 13
allele frequency: 1.082142976059668e-4
allele num: 120132
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.9244A>G
  hgvsp: ENSP00000305941.3:p.Ile3082Val
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.9244A>G
  hgvsp: ENSP00000355910.2:p.Ile3082Val
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 64
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Ile3082Val
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 2
  allele frequency: 3.024620410138528e-5
  allele num: 66124
  num of homozygotes: 0
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/1-216017651-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216017651
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216017651
    reference: chr 1
allele count: 1
allele frequency: 8.324315325064513e-6
allele num: 120130
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.9243T>G
  hgvsp: ENST00000307340.3:c.9243T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.9243T>G
  hgvsp: ENST00000366943.2:c.9243T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4951
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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hgvs: p.Thr3081Thr
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6578
  num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
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site quality: DP
site quality: ClippingRankSum
site quality: QD
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1-216017654-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216017654
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216017654
    reference: chr 1
allele count: 1
allele frequency: 8.321682977165302e-6
allele num: 120168
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.9240C>A
  hgvsp: ENSP00000355910.2:p.Phe3080Leu
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.9240C>A
  hgvsp: ENSP00000305941.3:p.Phe3080Leu
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 9.75e1
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genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37607
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2451
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8319
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 803
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2119
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Phe3080Leu
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

1-216017664-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216017664
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216017664
    reference: chr 1
allele count: 1
allele frequency: 8.307579835842223e-6
allele num: 120372
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.9230T>C
  hgvsp: ENSP00000355910.2:p.Leu3077Pro
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.9230T>C
  hgvsp: ENSP00000305941.3:p.Leu3077Pro
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30716
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1828
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4974
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14595
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2123
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  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: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 804
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1506
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6303
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8317
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2450
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37711
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu3077Pro
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16446
  num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

1-216017669-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216017669
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216017669
    reference: chr 1
allele count: 3
allele frequency: 2.490825459557297e-5
allele num: 120442
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.9225A>G
  hgvsp: ENST00000366943.2:c.9225A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.9225A>G
  hgvsp: ENST00000307340.3:c.9225A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14624
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 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: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30721
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 2
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6298
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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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
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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: 806
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 655
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 1504
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg3075Arg
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6596
  num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum

1-216017681-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216017681
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216017681
    reference: chr 1
allele count: 451
allele frequency: 3.741310371144625e-3
allele num: 120546
alternate allele: T
annotation: Annotation
  canonical: true
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.9213G>A
  hgvsp: ENST00000307340.3:c.9213G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.9213G>A
  hgvsp: ENST00000366943.2:c.9213G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 6.25e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4968
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 4.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 39
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 101
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 6.75e1
  variant carriers: 34
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 8688
  bin: 9.75e1
  variant carriers: 438
hgvs: p.Ser3071Ser
num of homozygotes: 6
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff

1-216017683-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216017683
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216017683
    reference: chr 1
allele count: 1
allele frequency: 8.294487483618387e-6
allele num: 120562
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.9211T>C
  hgvsp: ENSP00000305941.3:p.Ser3071Pro
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.9211T>C
  hgvsp: ENSP00000355910.2:p.Ser3071Pro
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 30527
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14772
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
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  bin: 5.25e1
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  bin: 6.75e1
  variant carriers: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
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  variant carriers: 0
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  variant carriers: 0
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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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  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
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  variant carriers: 0
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  variant carriers: 0
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  variant carriers: 0
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  variant carriers: 0
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2453
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser3071Pro
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 6.073120369245719e-5
  allele num: 16466
  num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

1-216017691-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216017691
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216017691
    reference: chr 1
allele count: 45
allele frequency: 3.730353471715631e-4
allele num: 120632
alternate allele: G
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.9203T>C
  hgvsp: ENSP00000355910.2:p.Val3068Ala
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: true
  clinical significance: likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.9203T>C
  hgvsp: ENSP00000305941.3:p.Val3068Ala
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1842
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30487
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 7.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 14796
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5050
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2446
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8332
  bin: 9.75e1
  variant carriers: 45
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 797
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 654
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 1501
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2114
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Val3068Ala
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

1-216017693-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216017693
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216017693
    reference: chr 1
allele count: 9
allele frequency: 7.460088526383847e-5
allele num: 120642
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.9201T>C
  hgvsp: ENST00000366943.2:c.9201T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.9201T>C
  hgvsp: ENST00000307340.3:c.9201T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30487
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1846
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5057
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14816
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2452
  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6325
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 656
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 8297
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 1499
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asn3067Asn
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11380
  num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP

1-216017699-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216017699
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216017699
    reference: chr 1
allele count: 1
allele frequency: 8.288300235387727e-6
allele num: 120652
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.9195A>C
  hgvsp: ENST00000366943.2:c.9195A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.9195A>C
  hgvsp: ENST00000307340.3:c.9195A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1847
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14816
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  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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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8294
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Gly3065Gly
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: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Latino
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP

1-216017711-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216017711
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216017711
    reference: chr 1
allele count: 1
allele frequency: 8.284592315212168e-6
allele num: 120706
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.9183C>A
  hgvsp: ENST00000307340.3:c.9183C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.9183C>A
  hgvsp: ENST00000366943.2:c.9183C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1846
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30422
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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: 7.5e0
  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: 310
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 2451
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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
  all individuals: 17
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu3061Leu
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10322
  num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/1-216017714-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216017714
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216017714
    reference: chr 1
allele count: 1
allele frequency: 8.283768783445716e-6
allele num: 120718
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.9180G>T
  hgvsp: ENSP00000355910.2:p.Lys3060Asn
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.9180G>T
  hgvsp: ENSP00000305941.3:p.Lys3060Asn
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14844
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5064
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30422
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1845
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2115
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8295
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 798
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 654
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1494
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6319
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37770
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2449
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Lys3060Asn
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 902
  num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Latino
reference allele: C
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

1-216017720-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216017720
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216017720
    reference: chr 1
allele count: 1
allele frequency: 8.280750567231414e-6
allele num: 120762
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.9174T>C
  hgvsp: ENST00000366943.2:c.9174T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.9174T>C
  hgvsp: ENST00000307340.3:c.9174T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14836
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1845
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30446
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5061
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
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genotype quality: GenotypeQuality
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  variant carriers: 0
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
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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: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37747
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 655
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asn3058Asn
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.504845602841149e-5
  allele num: 66452
  num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Other
population: South Asian
population: Latino
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/1-216017735-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216017735
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216017735
    reference: chr 1
allele count: 1
allele frequency: 8.277049397430804e-6
allele num: 120816
alternate allele: C
annotation: Annotation
  canonical: true
  clinical significance: pathogenic
  consequence: stop_gained
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.9159T>G
  hgvsp: ENSP00000305941.3:p.Tyr3053Ter
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: stop_gained
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.9159T>G
  hgvsp: ENSP00000355910.2:p.Tyr3053Ter
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5058
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  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
  all individuals: 291
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 51
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 2448
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genotype quality: GenotypeQuality
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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: 1493
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 656
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8295
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Tyr3053Ter
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS

1-216017738-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216017738
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216017738
    reference: chr 1
allele count: 1
allele frequency: 8.277186418792524e-6
allele num: 120814
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.9156G>C
  hgvsp: ENSP00000305941.3:p.Glu3052Asp
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.9156G>C
  hgvsp: ENSP00000355910.2:p.Glu3052Asp
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5063
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30482
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.25e1
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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: 6.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 4.75e1
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genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 655
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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Glu3052Asp
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.504166541319455e-5
  allele num: 66482
  num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/1-216017746-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216017746
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216017746
    reference: chr 1
allele count: 2
allele frequency: 1.655026314918407e-5
allele num: 120844
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.9148G>T
  hgvsp: ENSP00000355910.2:p.Val3050Phe
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.9148G>T
  hgvsp: ENSP00000305941.3:p.Val3050Phe
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14871
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1852
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5066
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30511
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37906
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6333
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1492
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2113
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2448
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8295
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 799
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Val3050Phe
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8612
  num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-216017751-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216017751
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216017751
    reference: chr 1
allele count: 1
allele frequency: 8.274036074797286e-6
allele num: 120860
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.9143G>A
  hgvsp: ENSP00000305941.3:p.Gly3048Asp
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.9143G>A
  hgvsp: ENSP00000355910.2:p.Gly3048Asp
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5064
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30516
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1371
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1850
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37926
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 6325
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 1492
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8294
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly3048Asp
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10352
  num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD

1-216017753-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216017753
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216017753
    reference: chr 1
allele count: 1
allele frequency: 8.274309922552459e-6
allele num: 120856
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.9141T>C
  hgvsp: ENST00000366943.2:c.9141T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.9141T>C
  hgvsp: ENST00000307340.3:c.9141T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5065
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30506
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14884
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 798
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2115
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asn3047Asn
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8610
  num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: Latino
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum

1-216017764-AAGG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216017764
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216017761
    reference: chr 1
allele count: 1
allele frequency: 8.275405494869249e-6
allele num: 120840
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.9127_9129delCCT
  hgvsp: ENSP00000305941.3:p.Pro3043del
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.9127_9129delCCT
  hgvsp: ENSP00000355910.2:p.Pro3043del
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1850
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5064
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14896
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
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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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genotype depth: GenotypeDepth
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  bin: 7.75e1
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genotype depth: GenotypeDepth
  all individuals: 467
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
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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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  bin: 5.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 6313
  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 799
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro3043del
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66502
  num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: AAGG
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff

1-216017766-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216017766
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216017766
    reference: chr 1
allele count: 1
allele frequency: 8.277460475126231e-6
allele num: 120810
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.9128C>T
  hgvsp: ENSP00000305941.3:p.Pro3043Leu
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.9128C>T
  hgvsp: ENSP00000355910.2:p.Pro3043Leu
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1853
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30464
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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  bin: 7.75e1
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genotype depth: GenotypeDepth
  all individuals: 982
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5064
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8294
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
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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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  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 37939
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1490
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro3043Leu
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11396
  num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

1-216017776-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216017776
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216017776
    reference: chr 1
allele count: 1
allele frequency: 8.284592315212168e-6
allele num: 120706
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.9118T>C
  hgvsp: ENSP00000305941.3:p.Trp3040Arg
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.9118T>C
  hgvsp: ENSP00000355910.2:p.Trp3040Arg
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30375
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1851
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 664
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.75e1
  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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  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: 467
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genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Trp3040Arg
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10292
  num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS

1-216017777-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216017777
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216017777
    reference: chr 1
allele count: 1
allele frequency: 8.285141427364165e-6
allele num: 120698
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.9117C>A
  hgvsp: ENST00000307340.3:c.9117C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.9117C>A
  hgvsp: ENST00000366943.2:c.9117C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14865
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1851
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 817
  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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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1091
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genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5052
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37844
  bin: 6.25e1
  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
  all individuals: 650
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genotype quality: GenotypeQuality
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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: 27
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ile3039Ile
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16494
  num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: DP

1-216017784-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216017784
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216017784
    reference: chr 1
allele count: 114
allele frequency: 9.453049852399748e-4
allele num: 120596
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.9110G>A
  hgvsp: ENSP00000355910.2:p.Arg3037His
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.9110G>A
  hgvsp: ENSP00000305941.3:p.Arg3037His
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 14820
  bin: 2.75e1
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genotype depth: GenotypeDepth
  all individuals: 466
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 8.25e1
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genotype depth: GenotypeDepth
  all individuals: 319
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genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 4.25e1
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genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 5.75e1
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genotype depth: GenotypeDepth
  all individuals: 118
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 6.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 35
  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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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 114
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg3037His
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 906
  num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

1-216017785-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216017785
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216017785
    reference: chr 1
allele count: 2
allele frequency: 1.658704883227176e-5
allele num: 120576
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.9109C>T
  hgvsp: ENSP00000355910.2:p.Arg3037Cys
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.9109C>T
  hgvsp: ENSP00000305941.3:p.Arg3037Cys
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5053
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 4.75e1
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  variant carriers: 0
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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  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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genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  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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  bin: 7.75e1
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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: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 795
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg3037Cys
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8556
  num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: QD
site quality: BaseQRankSum

1-216017790-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216017790
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216017790
    reference: chr 1
allele count: 1
allele frequency: 8.298755186721992e-6
allele num: 120500
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.9104C>A
  hgvsp: ENSP00000355910.2:p.Ala3035Asp
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.9104C>A
  hgvsp: ENSP00000305941.3:p.Ala3035Asp
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30216
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 79
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  variant carriers: 0
hgvs: p.Ala3035Asp
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 906
  num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

1-216017797-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216017797
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216017797
    reference: chr 1
allele count: 2
allele frequency: 1.661709234118214e-5
allele num: 120358
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.9097A>G
  hgvsp: ENSP00000305941.3:p.Ser3033Gly
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.9097A>G
  hgvsp: ENSP00000355910.2:p.Ser3033Gly
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14794
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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.Ser3033Gly
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6592
  num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

1-216017799-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216017799
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216017799
    reference: chr 1
allele count: 2
allele frequency: 1.662123529020677e-5
allele num: 120328
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.9095A>G
  hgvsp: ENSP00000305941.3:p.Asn3032Ser
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.9095A>G
  hgvsp: ENSP00000355910.2:p.Asn3032Ser
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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hgvs: p.Asn3032Ser
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11370
  num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff

1-216017799-TTGA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216017799
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216017796
    reference: chr 1
allele count: 1
allele frequency: 8.310617645103384e-6
allele num: 120328
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.9092_9094delTCA
  hgvsp: ENSP00000305941.3:p.Ile3031del
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.9092_9094delTCA
  hgvsp: ENSP00000355910.2:p.Ile3031del
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ile3031del
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11370
  num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: TTGA
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP

1-216017801-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216017801
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216017801
    reference: chr 1
allele count: 1
allele frequency: 8.315455104857889e-6
allele num: 120258
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.9093C>G
  hgvsp: ENSP00000355910.2:p.Ile3031Met
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.9093C>G
  hgvsp: ENSP00000305941.3:p.Ile3031Met
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.25e1
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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 depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2423
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ile3031Met
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8526
  num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ

1-216017808-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216017808
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216017808
    reference: chr 1
allele count: 1
allele frequency: 8.329030001166064e-6
allele num: 120062
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.9086T>C
  hgvsp: ENSP00000305941.3:p.Val3029Ala
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.9086T>C
  hgvsp: ENSP00000355910.2:p.Val3029Ala
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype 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: 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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  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val3029Ala
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10100
  num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum

1-216017816-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216017816
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216017816
    reference: chr 1
allele count: 1
allele frequency: 8.345016356232058e-6
allele num: 119832
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.9078A>G
  hgvsp: ENST00000307340.3:c.9078A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.9078A>G
  hgvsp: ENST00000366943.2:c.9078A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
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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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hgvs: p.Pro3026Pro
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10038
  num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff

1-216017823-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216017823
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216017823
    reference: chr 1
allele count: 4
allele frequency: 3.344537534072476e-5
allele num: 119598
alternate allele: T
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.9071T>A
  hgvsp: ENSP00000305941.3:p.Leu3024His
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.9071T>A
  hgvsp: ENSP00000355910.2:p.Leu3024His
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2049
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1480
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu3024His
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/1-216017829-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216017829
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216017829
    reference: chr 1
allele count: 1
allele frequency: 8.386869517084054e-6
allele num: 119234
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.9065G>T
  hgvsp: ENSP00000355910.2:p.Gly3022Val
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.9065G>T
  hgvsp: ENSP00000305941.3:p.Gly3022Val
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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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  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 650
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36648
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly3022Val
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16458
  num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

1-216017829-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216017829
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216017829
    reference: chr 1
allele count: 1
allele frequency: 8.386869517084054e-6
allele num: 119234
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.9065G>A
  hgvsp: ENSP00000305941.3:p.Gly3022Asp
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.9065G>A
  hgvsp: ENSP00000355910.2:p.Gly3022Asp
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1834
  bin: 3.75e1
  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: 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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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
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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: 6.25e1
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genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 5021
  bin: 3.25e1
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genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 1478
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly3022Asp
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11282
  num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

1-216017837-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216017837
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216017837
    reference: chr 1
allele count: 1
allele frequency: 8.423890152472412e-6
allele num: 118710
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.9057G>A
  hgvsp: ENST00000307340.3:c.9057G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.9057G>A
  hgvsp: ENST00000366943.2:c.9057G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: c.9057G>A
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum

1-216017840-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216017840
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216017840
    reference: chr 1
allele count: 2
allele frequency: 1.687365010799136e-5
allele num: 118528
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.9056-2A>G
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.9056-2A>G
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 222
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
hgvs: c.9056-2A>G
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 2
  allele frequency: 3.056141315974451e-5
  allele num: 65442
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-216017842-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216017842
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216017842
    reference: chr 1
allele count: 3
allele frequency: 2.535968486364943e-5
allele num: 118298
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.9056-4C>T
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.9056-4C>T
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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
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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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  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
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: c.9056-4C>T
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 65342
  num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum

1-216017855-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216017855
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216017855
    reference: chr 1
allele count: 5
allele frequency: 4.256623305863924e-5
allele num: 117464
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.9056-17T>A
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.9056-17T>A
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25833
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 5
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 882
  num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: ClippingRankSum

1-216017863-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216017863
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216017863
    reference: chr 1
allele count: 1
allele frequency: 8.532714427113554e-6
allele num: 117196
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.9056-25A>G
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.9056-25A>G
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype 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: 6514
  num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQ

1-216017887-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216017887
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216017887
    reference: chr 1
allele count: 2
allele frequency: 1.730073874154426e-5
allele num: 115602
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.9056-49C>T
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.9056-49C>T
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9286
  num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

1-216017888-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216017888
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216017888
    reference: chr 1
allele count: 1
allele frequency: 8.653513326410523e-6
allele num: 115560
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.9056-50G>A
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.9056-50G>A
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1658
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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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num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.567250728771589e-5
  allele num: 63806
  num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: African
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/1-216017890-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216017890
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216017890
    reference: chr 1
allele count: 194
allele frequency: 1.682946718253899e-3
allele num: 115274
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.9056-52G>T
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.9056-52G>T
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9610
  bin: 1.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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num of homozygotes: 2
population: European (Non-Finnish)
  type: Population
  allele count: 8
  allele frequency: 1.25675505843911e-4
  allele num: 63656
  num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
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site quality: MQ
site quality: ReadPosRankSum
site quality: FS
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site quality: QD

http://identifiers.org/exac.variant/1-216019116-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216019116
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216019116
    reference: chr 1
allele count: 1
allele frequency: 8.665811639918195e-6
allele num: 115396
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.9055+50G>T
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.9055+50G>T
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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num of homozygotes: 0
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  type: Population
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  allele num: 15580
  num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: African
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
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site quality: BaseQRankSum

1-216019126-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216019126
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216019126
    reference: chr 1
allele count: 3
allele frequency: 2.595290412997215e-5
allele num: 115594
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.9055+40G>A
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.9055+40G>A
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 437
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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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num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10774
  num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP

1-216019127-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216019127
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216019127
    reference: chr 1
allele count: 7
allele frequency: 6.049920486759317e-5
allele num: 115704
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.9055+39C>T
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.9055+39C>T
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10040
  num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
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site quality: VQSLOD
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site quality: QD

1-216019130-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216019130
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216019130
    reference: chr 1
allele count: 1
allele frequency: 8.599783285461207e-6
allele num: 116282
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.9055+36A>G
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.9055+36A>G
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype 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: 1.55938123752495e-5
  allele num: 64128
  num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS
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site quality: MQ
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site quality: BaseQRankSum
site quality: VQSLOD
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1-216019135-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216019135
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216019135
    reference: chr 1
allele count: 1
allele frequency: 8.572947207791094e-6
allele num: 116646
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.9055+31C>G
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.9055+31C>G
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
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  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: 15700
  num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff

1-216019139-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216019139
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216019139
    reference: chr 1
allele count: 1
allele frequency: 8.528202766548977e-6
allele num: 117258
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.9055+27G>A
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.9055+27G>A
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: intron
filter: PASS
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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  type: Population
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  allele num: 10148
  num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
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1-216019144-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216019144
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216019144
    reference: chr 1
allele count: 1
allele frequency: 8.469838903664053e-6
allele num: 118066
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.9055+22T>C
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.9055+22T>C
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2338
  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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 882
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

1-216019149-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216019149
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216019149
    reference: chr 1
allele count: 4
allele frequency: 3.368874964205703e-5
allele num: 118734
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.9055+17A>G
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.9055+17A>G
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.5e0
  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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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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
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num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11078
  num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/1-216019163-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216019163
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216019163
    reference: chr 1
allele count: 1
allele frequency: 8.324038157390913e-6
allele num: 120134
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.9055+3G>T
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.9055+3G>T
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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hgvs: c.9055+3G>T
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6564
  num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

1-216019171-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216019171
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216019171
    reference: chr 1
allele count: 1
allele frequency: 8.298892927683448e-6
allele num: 120498
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.9050A>G
  hgvsp: ENSP00000305941.3:p.Asp3017Gly
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.9050A>G
  hgvsp: ENSP00000355910.2:p.Asp3017Gly
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Asp3017Gly
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 900
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

1-216019174-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216019174
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216019174
    reference: chr 1
allele count: 7
allele frequency: 5.804793100588772e-5
allele num: 120590
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.9047G>A
  hgvsp: ENSP00000305941.3:p.Cys3016Tyr
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.9047G>A
  hgvsp: ENSP00000355910.2:p.Cys3016Tyr
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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hgvs: p.Cys3016Tyr
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16386
  num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

1-216019179-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216019179
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216019179
    reference: chr 1
allele count: 1
allele frequency: 8.283357078956959e-6
allele num: 120724
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.9042C>T
  hgvsp: ENST00000307340.3:c.9042C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.9042C>T
  hgvsp: ENST00000366943.2:c.9042C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  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: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
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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: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1246
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4857
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Thr3014Thr
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6582
  num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

1-216019180-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216019180
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216019180
    reference: chr 1
allele count: 13
allele frequency: 1.076622387120284e-4
allele num: 120748
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.9041C>A
  hgvsp: ENSP00000305941.3:p.Thr3014Asn
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.9041C>A
  hgvsp: ENSP00000355910.2:p.Thr3014Asn
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34374
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
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  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 612
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  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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  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 538
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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
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
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  variant carriers: 0
hgvs: p.Thr3014Asn
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10388
  num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

1-216019184-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216019184
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216019184
    reference: chr 1
allele count: 5
allele frequency: 4.13893579682792e-5
allele num: 120804
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.9037G>A
  hgvsp: ENSP00000355910.2:p.Ala3013Thr
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.9037G>A
  hgvsp: ENSP00000305941.3:p.Ala3013Thr
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34351
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
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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: 1602
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genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  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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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 722
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala3013Thr
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16436
  num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ

1-216019185-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216019185
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216019185
    reference: chr 1
allele count: 16
allele frequency: 1.324218297386324e-4
allele num: 120826
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.9036T>C
  hgvsp: ENST00000307340.3:c.9036T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.9036T>C
  hgvsp: ENST00000366943.2:c.9036T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
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genotype depth: GenotypeDepth
  all individuals: 656
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genotype depth: GenotypeDepth
  all individuals: 598
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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  variant carriers: 3
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
hgvs: p.His3012His
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16444
  num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

1-216019190-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216019190
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216019190
    reference: chr 1
allele count: 1
allele frequency: 8.273351534706709e-6
allele num: 120870
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.9031C>G
  hgvsp: ENSP00000305941.3:p.Leu3011Val
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.9031C>G
  hgvsp: ENSP00000355910.2:p.Leu3011Val
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 6.25e1
  variant carriers: 1
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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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
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genotype depth: GenotypeDepth
  all individuals: 612
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.75e1
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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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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
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genotype depth: GenotypeDepth
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  bin: 2.75e1
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genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5598
  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: 2.25e1
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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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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu3011Val
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11358
  num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum

1-216019195-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216019195
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216019195
    reference: chr 1
allele count: 2
allele frequency: 1.654150263009892e-5
allele num: 120908
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.9026C>T
  hgvsp: ENSP00000305941.3:p.Ala3009Val
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.9026C>T
  hgvsp: ENSP00000355910.2:p.Ala3009Val
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
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genotype depth: GenotypeDepth
  all individuals: 184
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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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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1119
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala3009Val
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.502223290469895e-5
  allele num: 66568
  num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

1-216019204-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216019204
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216019204
    reference: chr 1
allele count: 1
allele frequency: 8.267742575567167e-6
allele num: 120952
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.9017T>A
  hgvsp: ENSP00000355910.2:p.Ile3006Asn
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.9017T>A
  hgvsp: ENSP00000305941.3:p.Ile3006Asn
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34238
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genotype depth: GenotypeDepth
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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: 537
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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
  all individuals: 555
  bin: 6.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
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genotype quality: GenotypeQuality
  all individuals: 1119
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 476
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hgvs: p.Ile3006Asn
num of homozygotes: 0
population: African
  type: Population
  allele count: 1
  allele frequency: 9.620935154897056e-5
  allele num: 10394
  num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD

1-216019212-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216019212
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216019212
    reference: chr 1
allele count: 1
allele frequency: 8.266785708380868e-6
allele num: 120966
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.9009C>A
  hgvsp: ENST00000307340.3:c.9009C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.9009C>A
  hgvsp: ENST00000366943.2:c.9009C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
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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
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val3003Val
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6592
  num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

1-216019213-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216019213
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216019213
    reference: chr 1
allele count: 27
allele frequency: 2.23181074244904e-4
allele num: 120978
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.9008T>C
  hgvsp: ENSP00000355910.2:p.Val3003Ala
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.9008T>C
  hgvsp: ENSP00000305941.3:p.Val3003Ala
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34150
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
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  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
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genotype depth: GenotypeDepth
  all individuals: 423
  bin: 5.25e1
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genotype depth: GenotypeDepth
  all individuals: 654
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1605
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 3830
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5618
  bin: 9.75e1
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1248
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4896
  bin: 6.75e1
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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: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1110
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Val3003Ala
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 23
  allele frequency: 3.453764603417725e-4
  allele num: 66594
  num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: Other
reference allele: A
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum

1-216019228-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216019228
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216019228
    reference: chr 1
allele count: 2
allele frequency: 1.653001851362074e-5
allele num: 120992
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.8993C>G
  hgvsp: ENSP00000355910.2:p.Ser2998Cys
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.8993C>G
  hgvsp: ENSP00000305941.3:p.Ser2998Cys
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3843
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genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1107
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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 716
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser2998Cys
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8626
  num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/1-216019237-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216019237
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216019237
    reference: chr 1
allele count: 1
allele frequency: 8.265009256810368e-6
allele num: 120992
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.8984T>G
  hgvsp: ENSP00000355910.2:p.Ile2995Ser
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.8984T>G
  hgvsp: ENSP00000305941.3:p.Ile2995Ser
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13390
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3846
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  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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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 9.75e1
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genotype depth: GenotypeDepth
  all individuals: 653
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1242
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 13
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 717
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ile2995Ser
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66598
  num of homozygotes: 0
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD

1-216019241-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216019241
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216019241
    reference: chr 1
allele count: 1
allele frequency: 8.265009256810368e-6
allele num: 120992
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.8980T>C
  hgvsp: ENSP00000305941.3:p.Trp2994Arg
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.8980T>C
  hgvsp: ENSP00000355910.2:p.Trp2994Arg
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13421
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genotype depth: GenotypeDepth
  all individuals: 34010
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 4.75e1
  variant carriers: 0
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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 27
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Trp2994Arg
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6588
  num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

1-216019242-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216019242
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216019242
    reference: chr 1
allele count: 3
allele frequency: 2.479461791493793e-5
allele num: 120994
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.8979T>C
  hgvsp: ENST00000366943.2:c.8979T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.8979T>C
  hgvsp: ENST00000307340.3:c.8979T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3850
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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
  all individuals: 668
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45773
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 1240
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1105
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4889
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5597
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 719
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Tyr2993Tyr
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10400
  num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ

1-216019270-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216019270
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216019270
    reference: chr 1
allele count: 1
allele frequency: 8.263779852904718e-6
allele num: 121010
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.8951T>C
  hgvsp: ENSP00000305941.3:p.Ile2984Thr
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.8951T>C
  hgvsp: ENSP00000355910.2:p.Ile2984Thr
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33891
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3866
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13557
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45845
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5594
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1102
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4886
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1252
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 723
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ile2984Thr
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10400
  num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10350
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.004356316659156e-5
allele num: 66570
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.28e0

MQRankSum
type: SiteQuality
SIO_000300: 1.32e0

FS
type: SiteQuality
SIO_000300: 1.208e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.23e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.1e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -5.674e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

DP
type: SiteQuality
SIO_000300: 2.507805e6

QD
type: SiteQuality
SIO_000300: 1.627e1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10346
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.509921828021648e-5
allele num: 66520
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.671522719389525e-5
allele num: 11532
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 7.82e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.02e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.41e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.02e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.97e-1

DP
type: SiteQuality
SIO_000300: 2.495215e6

QD
type: SiteQuality
SIO_000300: 1.461e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

MQ
type: SiteQuality
SIO_000300: 5.978e1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9778
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8026
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15984
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.57114127702363e-5
allele num: 63648
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.073e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.98e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.43e0

VQSLOD
type: SiteQuality
SIO_000300: -1.098e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.777e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.56e-1

DP
type: SiteQuality
SIO_000300: 1.613505e6

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9828
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11104
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.683109584764284e-5
allele num: 64060
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8104
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 2.968e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.87e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.613e0

VQSLOD
type: SiteQuality
SIO_000300: 4.66e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -6.95e-1

DP
type: SiteQuality
SIO_000300: 1.670795e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.6e-2

QD
type: SiteQuality
SIO_000300: 1.559e1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64336
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9872
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6520
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8182
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11132
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.208866261020738e-5
allele num: 16106
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.084e0

MQRankSum
type: SiteQuality
SIO_000300: 8.78e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.32e-1

FS
type: SiteQuality
SIO_000300: 7.372e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.054e0

DP
type: SiteQuality
SIO_000300: 1.700072e6

QD
type: SiteQuality
SIO_000300: 1.019e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10048
num of homozygotes: 0

East Asian
type: Population
allele count: 100
allele frequency: 1.185395922238027e-2
allele num: 8436
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.123595505617978e-3
allele num: 890
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65366
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11234
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.843431240014748e-4
allele num: 16274
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.4e0

VQSLOD
type: SiteQuality
SIO_000300: 3.76e0

QD
type: SiteQuality
SIO_000300: 1.457e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 1.954e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.47e-1

DP
type: SiteQuality
SIO_000300: 1.749096e6

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16318
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
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: 8496
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10074
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11260
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.29e-1

DP
type: SiteQuality
SIO_000300: 1.755102e6

QD
type: SiteQuality
SIO_000300: 1.362e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.23e-1

FS
type: SiteQuality
SIO_000300: 1.227e0

VQSLOD
type: SiteQuality
SIO_000300: 8.99e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.76e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.947e1

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: 894
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11286
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8516
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.520265134239411e-5
allele num: 65778
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16346
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.6e-2

FS
type: SiteQuality
SIO_000300: 3.977e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

MQRankSum
type: SiteQuality
SIO_000300: -1.092e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.91e-1

QD
type: SiteQuality
SIO_000300: 1.619e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.26e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.76089e6

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516852228255923e-5
allele num: 65926
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10142
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16382
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11304
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8538
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 8.29e-1

FS
type: SiteQuality
SIO_000300: 2.519e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

VQSLOD
type: SiteQuality
SIO_000300: 2.76e-1

DP
type: SiteQuality
SIO_000300: 1.764623e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.132e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.92e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.19e-1

QD
type: SiteQuality
SIO_000300: 9.9e0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10174
num of homozygotes: 0

Latino
type: Population
allele count: 10
allele frequency: 8.821453775582216e-4
allele num: 11336
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66092
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.42e0

FS
type: SiteQuality
SIO_000300: 1.345e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.770577e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.16e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.24e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.66e-1

QD
type: SiteQuality
SIO_000300: 1.314e1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10188
num of homozygotes: 0

East Asian
type: Population
allele count: 10
allele frequency: 1.166044776119403e-3
allele num: 8576
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.087909411907951e-5
allele num: 16426
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11340
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.963e1

MQRankSum
type: SiteQuality
SIO_000300: -2.48e-1

DP
type: SiteQuality
SIO_000300: 1.771589e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.669999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.21e0

FS
type: SiteQuality
SIO_000300: 1.958e0

QD
type: SiteQuality
SIO_000300: 1.317e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.55e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.05e0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8572
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512264464809606e-5
allele num: 66126
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10188
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11338
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16428
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.15e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.43e-1

DP
type: SiteQuality
SIO_000300: 1.771304e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.35e-1

QD
type: SiteQuality
SIO_000300: 8.6e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.96e0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10198
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511990081345066e-5
allele num: 66138
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16432
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11348
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.105e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.115e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

MQRankSum
type: SiteQuality
SIO_000300: 4.61e-1

DP
type: SiteQuality
SIO_000300: 1.772179e6

FS
type: SiteQuality
SIO_000300: 2.546e0

VQSLOD
type: SiteQuality
SIO_000300: 8.139999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.48e-1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66244
num of homozygotes: 0

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: 11356
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10250
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.165772907437631e-4
allele num: 8578
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BaseQRankSum
type: SiteQuality
SIO_000300: 5.73e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

MQRankSum
type: SiteQuality
SIO_000300: 4.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

DP
type: SiteQuality
SIO_000300: 1.77418e6

VQSLOD
type: SiteQuality
SIO_000300: 2.37e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -7.48e-1

QD
type: SiteQuality
SIO_000300: 1.077e1

Latino
type: Population
allele count: 1
allele frequency: 8.799718409010911e-5
allele num: 11364
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10258
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66280
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8586
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.215362177929023e-4
allele num: 16456
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.28e-1

MQ
type: SiteQuality
SIO_000300: 5.95e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.3e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.95e-1

DP
type: SiteQuality
SIO_000300: 1.775073e6

MQRankSum
type: SiteQuality
SIO_000300: -6.2e-1

QD
type: SiteQuality
SIO_000300: 1.15e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.51e-1

Other
type: Population
allele count: 3
allele frequency: 3.325942350332594e-3
allele num: 902
num of homozygotes: 0

African
type: Population
allele count: 398
allele frequency: 3.865578865578866e-2
allele num: 10296
num of homozygotes: 6

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8586
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 28
allele frequency: 4.221444940296707e-4
allele num: 66328
num of homozygotes: 0

Latino
type: Population
allele count: 19
allele frequency: 1.670182841068917e-3
allele num: 11376
num of homozygotes: 0

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

South Asian
type: Population
allele count: 3
allele frequency: 1.822378811809015e-4
allele num: 16462
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.33e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.77e0

MQRankSum
type: SiteQuality
SIO_000300: 3.77e-1

QD
type: SiteQuality
SIO_000300: 1.275e1

FS
type: SiteQuality
SIO_000300: 5.33e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.86e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.72e-1

DP
type: SiteQuality
SIO_000300: 1.797764e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.29e-2

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10294
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11374
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66340
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.370000000000001e-1

FS
type: SiteQuality
SIO_000300: 9.78e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.13e0

QD
type: SiteQuality
SIO_000300: 2.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.16e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.171e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.29e-2

DP
type: SiteQuality
SIO_000300: 1.776727e6

MQ
type: SiteQuality
SIO_000300: 5.972e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.35e-1

African
type: Population
allele count: 2
allele frequency: 1.940993788819876e-4
allele num: 10304
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.546832373446499e-4
allele num: 6598
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 38
allele frequency: 5.724615848147032e-4
allele num: 66380
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.757469244288225e-4
allele num: 11380
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16476
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.193e1

MQRankSum
type: SiteQuality
SIO_000300: 3.34e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.779711e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.62e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.07e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.89e0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.024640780793445e-5
allele num: 66394
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10304
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South Asian
type: Population
allele count: 5
allele frequency: 3.035085589413621e-4
allele num: 16474
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.7e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.1e-2

QD
type: SiteQuality
SIO_000300: 1.262e1

FS
type: SiteQuality
SIO_000300: 5.23e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.2e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.71e-1

MQ
type: SiteQuality
SIO_000300: 5.986e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.84e-1

DP
type: SiteQuality
SIO_000300: 1.778068e6

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505978735580254e-5
allele num: 66402
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16474
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10304
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11382
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.052e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.31e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.11e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.914e0

QD
type: SiteQuality
SIO_000300: 1.385e1

MQRankSum
type: SiteQuality
SIO_000300: 2.97e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -3.884e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

DP
type: SiteQuality
SIO_000300: 1.777817e6

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11380
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.070171178827243e-5
allele num: 16474
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66434
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.2e-2

MQRankSum
type: SiteQuality
SIO_000300: -6.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.415e0

QD
type: SiteQuality
SIO_000300: 1.151e1

MQ
type: SiteQuality
SIO_000300: 5.932e1

FS
type: SiteQuality
SIO_000300: 8.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -4.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.5e-1

DP
type: SiteQuality
SIO_000300: 1.778383e6

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66438
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16482
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.691800736576855e-5
allele num: 10318
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11378
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.778444e6

FS
type: SiteQuality
SIO_000300: 1.177e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.725e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.4e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.249e0

QD
type: SiteQuality
SIO_000300: 1.01e1

VQSLOD
type: SiteQuality
SIO_000300: -5.175999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.919e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 3.71e-1

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.47e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.77e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

QD
type: SiteQuality
SIO_000300: 1.498e1

VQSLOD
type: SiteQuality
SIO_000300: 7.47e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.603e0

DP
type: SiteQuality
SIO_000300: 1.778588e6

MQRankSum
type: SiteQuality
SIO_000300: 8.95e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.5e-1

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

South Asian
type: Population
allele count: 1
allele frequency: 6.063545961678389e-5
allele num: 16492
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66480
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10340
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11394
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -5.570000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.82e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.43e-1

QD
type: SiteQuality
SIO_000300: 1.378e1

DP
type: SiteQuality
SIO_000300: 1.779386e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.19e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.454e0

FS
type: SiteQuality
SIO_000300: 0.0e0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11388
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10340
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.3e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.973e0

QD
type: SiteQuality
SIO_000300: 1.158e1

MQ
type: SiteQuality
SIO_000300: 5.958e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.24e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.65e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.5e0

DP
type: SiteQuality
SIO_000300: 1.779596e6

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11394
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 906
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10346
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.007880647295915e-5
allele num: 66492
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ClippingRankSum
type: SiteQuality
SIO_000300: -6.81e-1

QD
type: SiteQuality
SIO_000300: 1.275e1

DP
type: SiteQuality
SIO_000300: 1.779972e6

FS
type: SiteQuality
SIO_000300: 1.815e0

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

MQ
type: SiteQuality
SIO_000300: 5.96e1

MQRankSum
type: SiteQuality
SIO_000300: -3.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.389e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.4e-2

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11396
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.503714174009804e-5
allele num: 66502
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South Asian
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
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Other
type: Population
allele count: 0
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ReadPosRankSum
type: SiteQuality
SIO_000300: 4.71e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.12e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.213e0

MQRankSum
type: SiteQuality
SIO_000300: 1.05e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 7.64e-1

DP
type: SiteQuality
SIO_000300: 1.779935e6

QD
type: SiteQuality
SIO_000300: 1.31e1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66504
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South Asian
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allele num: 16494
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African
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allele count: 0
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Other
type: Population
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allele num: 906
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Latino
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allele count: 1
allele frequency: 8.776549060909251e-5
allele num: 11394
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European (Finnish)
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allele num: 6602
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ReadPosRankSum
type: SiteQuality
SIO_000300: 3.37e-1

FS
type: SiteQuality
SIO_000300: 1.888e0

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -5.55e-1

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.969e1

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

MQRankSum
type: SiteQuality
SIO_000300: -1.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.46e-1

African
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allele count: 0
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South Asian
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allele frequency: 6.06060606060606e-5
allele num: 16500
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Latino
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allele count: 0
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allele num: 11398
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6602
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East Asian
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Other
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BaseQRankSum
type: SiteQuality
SIO_000300: 3.15e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e0

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.688e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.22e-1

FS
type: SiteQuality
SIO_000300: 8.92e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.49e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.5e0

DP
type: SiteQuality
SIO_000300: 1.779749e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

African
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8600
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.503985561738607e-5
allele num: 66490
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Other
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6602
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South Asian
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QD
type: SiteQuality
SIO_000300: 1.559e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.581e0

VQSLOD
type: SiteQuality
SIO_000300: -9.569999999999999e-2

DP
type: SiteQuality
SIO_000300: 1.779607e6

MQ
type: SiteQuality
SIO_000300: 5.88e1

FS
type: SiteQuality
SIO_000300: 1.913e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.929999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.57e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.08e-1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505117399157134e-5
allele num: 66440
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East Asian
type: Population
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Latino
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allele count: 0
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allele num: 11390
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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Other
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QD
type: SiteQuality
SIO_000300: 6.22e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.57e-1

DP
type: SiteQuality
SIO_000300: 1.778019e6

MQ
type: SiteQuality
SIO_000300: 5.956e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.3e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.0e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.734e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.91e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

European (Finnish)
type: Population
allele count: 0
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African
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allele num: 10292
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.505253334136135e-5
allele num: 66434
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Latino
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East Asian
type: Population
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Other
type: Population
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.85e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.453e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.91e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.347e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.101e0

QD
type: SiteQuality
SIO_000300: 1.74e1

DP
type: SiteQuality
SIO_000300: 1.777816e6

African
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allele count: 1
allele frequency: 9.738994935722633e-5
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Latino
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
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European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.025003765627353e-5
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South Asian
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East Asian
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InbreedingCoeff
type: SiteQuality
SIO_000300: 8.800000000000001e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.25e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.34e-1

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.783646e6

MQ
type: SiteQuality
SIO_000300: 5.969e1

VQSLOD
type: SiteQuality
SIO_000300: 3.49e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.45e-1

South Asian
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allele count: 0
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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Other
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allele count: 0
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African
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allele count: 0
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.012864933265042e-5
allele num: 66382
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ReadPosRankSum
type: SiteQuality
SIO_000300: -9.6e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 8.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.94e1

FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.777503e6

QD
type: SiteQuality
SIO_000300: 1.002e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.71e0

African
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South Asian
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.507249871883761e-5
allele num: 66346
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Latino
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European (Finnish)
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East Asian
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MQ
type: SiteQuality
SIO_000300: 5.936e1

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

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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DP
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -7.33e-1

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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African
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Latino
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East Asian
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South Asian
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Other
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European (Non-Finnish)
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BaseQRankSum
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DP
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ReadPosRankSum
type: SiteQuality
SIO_000300: -8.27e-1

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.974e1

QD
type: SiteQuality
SIO_000300: 1.16e1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
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Other
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South Asian
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African
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8520
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.018503426001389e-5
allele num: 66258
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 4.894e0

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -6.57e-1

DP
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ReadPosRankSum
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MQ
type: SiteQuality
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VQSLOD
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

European (Finnish)
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African
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East Asian
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.509251713000694e-5
allele num: 66258
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Other
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South Asian
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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ClippingRankSum
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SIO_000300: 5.33e-1

QD
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VQSLOD
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InbreedingCoeff
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
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SIO_000300: 1.774039e6

European (Finnish)
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allele count: 0
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Other
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African
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Latino
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South Asian
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European (Non-Finnish)
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allele num: 66214
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ClippingRankSum
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QD
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ReadPosRankSum
type: SiteQuality
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DP
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.906e1

European (Finnish)
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European (Non-Finnish)
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allele frequency: 1.511944360447535e-5
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Latino
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East Asian
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South Asian
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Other
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
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MQ
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
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SIO_000300: 6.589e0

DP
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.257e0

South Asian
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European (Non-Finnish)
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allele count: 1
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Latino
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East Asian
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Other
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European (Finnish)
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VQSLOD
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.56e-1

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

DP
type: SiteQuality
SIO_000300: 1.766991e6

MQRankSum
type: SiteQuality
SIO_000300: 9.59e-1

FS
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 9.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
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South Asian
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allele frequency: 1.821051353648173e-4
allele num: 16474
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6570
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9936
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11310
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516484183069971e-5
allele num: 65942
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East Asian
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allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.217e0

MQ
type: SiteQuality
SIO_000300: 5.978e1

FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.764175e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.02e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.85e-1

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8428
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11282
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6562
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.520172691617768e-5
allele num: 65782
num of homozygotes: 0

African
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allele count: 0
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allele num: 9826
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MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.760113e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

FS
type: SiteQuality
SIO_000300: 3.793e0

MQRankSum
type: SiteQuality
SIO_000300: 1.11e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.93e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.3e-3

QD
type: SiteQuality
SIO_000300: 8.699999999999999e0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.520172691617768e-5
allele num: 65782
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6562
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South Asian
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allele frequency: 0.0e0
allele num: 16458
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9826
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8428
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
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DP
type: SiteQuality
SIO_000300: 1.760113e6

VQSLOD
type: SiteQuality
SIO_000300: -8.3e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 8.699999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.8e-2

FS
type: SiteQuality
SIO_000300: 3.793e0

MQRankSum
type: SiteQuality
SIO_000300: 1.11e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.902e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.93e-1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6544
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11250
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South Asian
type: Population
allele count: 1
allele frequency: 6.085686465433301e-5
allele num: 16432
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9670
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8382
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65538
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QD
type: SiteQuality
SIO_000300: 1.01e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.237e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.49e0

MQRankSum
type: SiteQuality
SIO_000300: 1.85e-1

DP
type: SiteQuality
SIO_000300: 1.753049e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.04e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.686e0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11232
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6542
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8366
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9632
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16422
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
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BaseQRankSum
type: SiteQuality
SIO_000300: 7.02e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.18e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.286e-1

MQ
type: SiteQuality
SIO_000300: 5.989e1

MQRankSum
type: SiteQuality
SIO_000300: 1.49e0

FS
type: SiteQuality
SIO_000300: 7.01e-1

QD
type: SiteQuality
SIO_000300: 1.702e1

DP
type: SiteQuality
SIO_000300: 1.750561e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.929999999999999e-1

African
type: Population
allele count: 3
allele frequency: 3.128258602711158e-4
allele num: 9590
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6534
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16410
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
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East Asian
type: Population
allele count: 0
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allele num: 8330
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ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

DP
type: SiteQuality
SIO_000300: 1.746596e6

QD
type: SiteQuality
SIO_000300: 8.84e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.95e-1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 6.687e0

MQ
type: SiteQuality
SIO_000300: 5.945e1

MQRankSum
type: SiteQuality
SIO_000300: 8.159999999999999e-1

African
type: Population
allele count: 5
allele frequency: 5.279831045406547e-4
allele num: 9470
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11156
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64874
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South Asian
type: Population
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8200
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6516
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MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.05e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.109e0

VQSLOD
type: SiteQuality
SIO_000300: 1.76e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.6e-1

QD
type: SiteQuality
SIO_000300: 1.258e1

FS
type: SiteQuality
SIO_000300: 6.049e0

DP
type: SiteQuality
SIO_000300: 1.71708e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.21e-1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8160
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64700
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11144
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.05909764880322e-4
allele num: 9442
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16354
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FS
type: SiteQuality
SIO_000300: 3.493e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.67e0

MQRankSum
type: SiteQuality
SIO_000300: 2.67e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.337e0

DP
type: SiteQuality
SIO_000300: 1.699927e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

VQSLOD
type: SiteQuality
SIO_000300: 7.24e-1

QD
type: SiteQuality
SIO_000300: 1.474e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.41e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7890
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16252
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6478
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10984
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European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.132439543916802e-5
allele num: 63848
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.84e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.26e-1

FS
type: SiteQuality
SIO_000300: 1.0739e1

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -8.828e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.32e-1

DP
type: SiteQuality
SIO_000300: 1.622704e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.633e0

MQ
type: SiteQuality
SIO_000300: 5.96e1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16240
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6482
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East Asian
type: Population
allele count: 0
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African
type: Population
allele count: 0
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Latino
type: Population
allele count: 0
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allele num: 11000
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ClippingRankSum
type: SiteQuality
SIO_000300: 4.09e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.37e-1

FS
type: SiteQuality
SIO_000300: 8.84e0

DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.835e1

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 5.1e-1

Other
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele frequency: 6.159152500615915e-5
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African
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allele count: 175
allele frequency: 1.889848812095032e-2
allele num: 9260
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East Asian
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allele count: 0
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Latino
type: Population
allele count: 10
allele frequency: 9.120758847136082e-4
allele num: 10964
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.628895e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.062e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.1e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.38e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.36e0

QD
type: SiteQuality
SIO_000300: 1.409e1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63584
num of homozygotes: 0

Latino
type: Population
allele count: 0
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Other
type: Population
allele count: 0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8196
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6386
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African
type: Population
allele count: 0
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allele num: 10012
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 6.52e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.45e0

DP
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -3.62e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.366e0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63716
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6386
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East Asian
type: Population
allele count: 0
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allele num: 8224
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African
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allele count: 1
allele frequency: 9.960159362549801e-5
allele num: 10040
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South Asian
type: Population
allele count: 2
allele frequency: 1.283532280836863e-4
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Other
type: Population
allele count: 0
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.742e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.57e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.6e-1

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 2.28e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.83e-1

FS
type: SiteQuality
SIO_000300: 4.325e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

DP
type: SiteQuality
SIO_000300: 1.667875e6

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6386
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.135091074395711e-5
allele num: 63794
num of homozygotes: 0

Latino
type: Population
allele count: 0
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allele num: 10796
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South Asian
type: Population
allele count: 4
allele frequency: 2.564760194921775e-4
allele num: 15596
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 1
allele frequency: 1.21713729308666e-4
allele num: 8216
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

FS
type: SiteQuality
SIO_000300: 2.752e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.12e0

MQRankSum
type: SiteQuality
SIO_000300: 7.2e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.52e0

DP
type: SiteQuality
SIO_000300: 1.682417e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.87e-1

QD
type: SiteQuality
SIO_000300: 1.327e1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8270
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 0
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South Asian
type: Population
allele count: 0
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Latino
type: Population
allele count: 0
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allele num: 10846
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 8.374000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e-1

MQ
type: SiteQuality
SIO_000300: 5.778e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.47e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.98e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.757e0

DP
type: SiteQuality
SIO_000300: 1.711574e6

East Asian
type: Population
allele count: 1
allele frequency: 1.201923076923077e-4
allele num: 8320
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10114
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6436
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10878
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 5.89e-1

FS
type: SiteQuality
SIO_000300: 1.6658e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.338e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.526e0

MQRankSum
type: SiteQuality
SIO_000300: 5.05e-1

QD
type: SiteQuality
SIO_000300: 8.119999999999999e0

DP
type: SiteQuality
SIO_000300: 1.749542e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10932
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64668
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.193317422434368e-4
allele num: 8380
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15790
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6456
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -8.139999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.74e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.776002e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.18e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.386e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.542e0

QD
type: SiteQuality
SIO_000300: 8.220000000000001e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6490
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11008
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10192
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15886
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8458
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.534919416730622e-5
allele num: 65150
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.29e0

QD
type: SiteQuality
SIO_000300: 9.82e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.14e-1

FS
type: SiteQuality
SIO_000300: 1.996e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.99e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.33e-1

DP
type: SiteQuality
SIO_000300: 1.798954e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.6e-1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8494
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.500625156289073e-4
allele num: 15996
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10248
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65506
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.7e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.1e-1

DP
type: SiteQuality
SIO_000300: 1.81773e6

FS
type: SiteQuality
SIO_000300: 2.245e0

VQSLOD
type: SiteQuality
SIO_000300: 1.1e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.53e0

QD
type: SiteQuality
SIO_000300: 1.551e1

MQ
type: SiteQuality
SIO_000300: 5.958e1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10342
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66224
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8580
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11242
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.140997297961189e-5
allele num: 16284
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.59e0

DP
type: SiteQuality
SIO_000300: 1.846074e6

QD
type: SiteQuality
SIO_000300: 1.086e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

FS
type: SiteQuality
SIO_000300: 6.193e0

MQ
type: SiteQuality
SIO_000300: 5.907e1

VQSLOD
type: SiteQuality
SIO_000300: -1.198e0

MQRankSum
type: SiteQuality
SIO_000300: 6.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.345e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.674e0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11306
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16368
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10368
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506432466632521e-5
allele num: 66382
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.852842e6

VQSLOD
type: SiteQuality
SIO_000300: -2.396e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.16e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.87e-1

FS
type: SiteQuality
SIO_000300: 1.986e0

MQ
type: SiteQuality
SIO_000300: 5.951e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 8.720000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: 5.600000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e-1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11324
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

East Asian
type: Population
allele count: 7
allele frequency: 8.135750813575082e-4
allele num: 8604
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66424
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.78e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.18e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.855207e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.78e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.012e0

QD
type: SiteQuality
SIO_000300: 1.087e1

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66500
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.161710037174721e-4
allele num: 8608
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16414
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -4.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -8.697e-1

QD
type: SiteQuality
SIO_000300: 9.9e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.017e0

FS
type: SiteQuality
SIO_000300: 2.97e0

MQ
type: SiteQuality
SIO_000300: 5.871e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.63e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.33e-1

DP
type: SiteQuality
SIO_000300: 1.857089e6

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16420
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66510
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

East Asian
type: Population
allele count: 13
allele frequency: 1.509521597770553e-3
allele num: 8612
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.857571e6

VQSLOD
type: SiteQuality
SIO_000300: 5.26e0

MQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.033e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.070000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 1.201e1

MQ
type: SiteQuality
SIO_000300: 5.982e1

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

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

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

African
type: Population
allele count: 5
allele frequency: 4.812319538017325e-4
allele num: 10390
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.828e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.399999999999999e-3

FS
type: SiteQuality
SIO_000300: 5.53e-1

QD
type: SiteQuality
SIO_000300: 1.234e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.71e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.09e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.88e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.77e-1

DP
type: SiteQuality
SIO_000300: 1.85887e6

MQ
type: SiteQuality
SIO_000300: 5.942e1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11354
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 15
allele frequency: 2.254418660574726e-4
allele num: 66536
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.518372304889159e-4
allele num: 6586
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 5.748e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.418e0

DP
type: SiteQuality
SIO_000300: 1.859076e6

QD
type: SiteQuality
SIO_000300: 1.1e1

VQSLOD
type: SiteQuality
SIO_000300: 4.1e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.1e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.8e-3

MQRankSum
type: SiteQuality
SIO_000300: -5.1e-1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502584445245823e-5
allele num: 66552
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.589e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.9e0

FS
type: SiteQuality
SIO_000300: 7.156e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.29e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.61e-1

DP
type: SiteQuality
SIO_000300: 1.859447e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.633e0

VQSLOD
type: SiteQuality
SIO_000300: -7.729999999999999e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.45e0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16466
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.620935154897056e-5
allele num: 10394
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.87e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.09e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.103e0

DP
type: SiteQuality
SIO_000300: 1.860509e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.12e-2

FS
type: SiteQuality
SIO_000300: 5.48e-1

MQ
type: SiteQuality
SIO_000300: 5.992e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.69e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.46e-1

QD
type: SiteQuality
SIO_000300: 1.285e1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66580
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11374
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.544e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.48e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.165e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.01e-2

DP
type: SiteQuality
SIO_000300: 1.860903e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.39e0

MQRankSum
type: SiteQuality
SIO_000300: -2.19e-1

MQ
type: SiteQuality
SIO_000300: 5.611e1

VQSLOD
type: SiteQuality
SIO_000300: -1.299e0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66590
num of homozygotes: 0

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

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

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: 11374
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.55e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.205e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.861542e6

MQRankSum
type: SiteQuality
SIO_000300: -9.07e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.26e-1

FS
type: SiteQuality
SIO_000300: 1.491e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

QD
type: SiteQuality
SIO_000300: 1.032e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.385e0

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

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

Latino
type: Population
allele count: 3
allele frequency: 2.637130801687763e-4
allele num: 11376
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.619084263178146e-5
allele num: 10396
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.862777e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.83e-1

FS
type: SiteQuality
SIO_000300: 1.099e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.16e0

MQ
type: SiteQuality
SIO_000300: 5.957e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.69e0

QD
type: SiteQuality
SIO_000300: 1.378e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.78e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.900000000000001e-2

South Asian
type: Population
allele count: 2
allele frequency: 1.212268153715602e-4
allele num: 16498
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11378
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66596
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.95e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.1e-2

VQSLOD
type: SiteQuality
SIO_000300: -6.513e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.389999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.862308e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e0

QD
type: SiteQuality
SIO_000300: 1.605e1

FS
type: SiteQuality
SIO_000300: 2.501e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.062075654704171e-5
allele num: 16496
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11378
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.48e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.98e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 6.850000000000001e-1

FS
type: SiteQuality
SIO_000300: 2.386e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

MQRankSum
type: SiteQuality
SIO_000300: 3.11e-1

DP
type: SiteQuality
SIO_000300: 1.862337e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.32e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.909999999999999e-1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50154659299078e-5
allele num: 66598
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11378
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -2.28e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.181e-1

FS
type: SiteQuality
SIO_000300: 2.037e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.53e0

QD
type: SiteQuality
SIO_000300: 1.29e1

MQ
type: SiteQuality
SIO_000300: 5.883e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.711e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 1.8625e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.82e0

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

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.504639778972342e-5
allele num: 66598
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11378
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 1.862732e6

MQRankSum
type: SiteQuality
SIO_000300: 8.35e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.19e0

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.75e-1

QD
type: SiteQuality
SIO_000300: 1.547e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.8e-2

MQ
type: SiteQuality
SIO_000300: 5.985e1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11390
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.863841e6

QD
type: SiteQuality
SIO_000300: 1.371e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.19e-1

MQ
type: SiteQuality
SIO_000300: 5.918e1