1-94485354-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94485354
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94485354
    reference: chr 1
allele count: 1
allele frequency: 1.38320239017373e-5
allele num: 72296
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000359245
  ensembl transcript: ENST00000370225
  gene symbol: ABCA4
  hgvsc: ENST00000370225.3:c.5019-39C>A
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000460514
  gene symbol: ABCA4
  hgvsc: ENST00000460514.1:n.513-39C>A
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000470771
  gene symbol: ABCA4
  hgvsc: ENST00000470771.1:n.129-39C>A
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  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: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 261
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 463
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 372
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1019
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

http://identifiers.org/exac.variant/1-94485355-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94485355
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94485355
    reference: chr 1
allele count: 2
allele frequency: 2.876621695480827e-5
allele num: 69526
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000359245
  ensembl transcript: ENST00000370225
  gene symbol: ABCA4
  hgvsc: ENST00000370225.3:c.5019-40T>G
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000470771
  gene symbol: ABCA4
  hgvsc: ENST00000470771.1:n.129-40T>G
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000460514
  gene symbol: ABCA4
  hgvsc: ENST00000460514.1:n.513-40T>G
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19778
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2725
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 2
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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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 11
  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
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 442
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

1-94485357-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94485357
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94485357
    reference: chr 1
allele count: 2
allele frequency: 2.891844997108155e-5
allele num: 69160
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000460514
  gene symbol: ABCA4
  hgvsc: ENST00000460514.1:n.513-42C>T
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000470771
  gene symbol: ABCA4
  hgvsc: ENST00000470771.1:n.129-42C>T
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000359245
  ensembl transcript: ENST00000370225
  gene symbol: ABCA4
  hgvsc: ENST00000370225.3:c.5019-42C>T
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5122
  bin: 2.5e0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

1-94485360-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94485360
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94485360
    reference: chr 1
allele count: 1
allele frequency: 1.50652324565368e-5
allele num: 66378
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000470771
  gene symbol: ABCA4
  hgvsc: ENST00000470771.1:n.129-45T>C
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000359245
  ensembl transcript: ENST00000370225
  gene symbol: ABCA4
  hgvsc: ENST00000370225.3:c.5019-45T>C
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000460514
  gene symbol: ABCA4
  hgvsc: ENST00000460514.1:n.513-45T>C
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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: 503
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQ

1-94485362-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94485362
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94485362
    reference: chr 1
allele count: 3
allele frequency: 4.767353165522502e-5
allele num: 62928
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000359245
  ensembl transcript: ENST00000370225
  gene symbol: ABCA4
  hgvsc: ENST00000370225.3:c.5019-47T>C
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000470771
  gene symbol: ABCA4
  hgvsc: ENST00000470771.1:n.129-47T>C
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000460514
  gene symbol: ABCA4
  hgvsc: ENST00000460514.1:n.513-47T>C
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  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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  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
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1866
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 1390
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8484
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1018
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4170
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17621
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 5391
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

1-94486746-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94486746
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94486746
    reference: chr 1
allele count: 9
allele frequency: 7.413142678286081e-5
allele num: 121406
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000470771
  gene symbol: ABCA4
  hgvsc: ENST00000470771.1:n.128+50T>C
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000359245
  ensembl transcript: ENST00000370225
  gene symbol: ABCA4
  hgvsc: ENST00000370225.3:c.5018+50T>C
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000460514
  gene symbol: ABCA4
  hgvsc: ENST00000460514.1:n.512+50T>C
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8942
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1974
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2844
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
  all individuals: 537
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  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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genotype quality: GenotypeQuality
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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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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34511
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 3953
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/1-94486754-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94486754
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94486754
    reference: chr 1
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000359245
  ensembl transcript: ENST00000370225
  gene symbol: ABCA4
  hgvsc: ENST00000370225.3:c.5018+42T>G
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000460514
  gene symbol: ABCA4
  hgvsc: ENST00000460514.1:n.512+42T>G
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000470771
  gene symbol: ABCA4
  hgvsc: ENST00000470771.1:n.128+42T>G
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6063
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1972
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8695
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2843
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4316
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8062
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7988
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1734
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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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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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

1-94486767-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94486767
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94486767
    reference: chr 1
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000359245
  ensembl transcript: ENST00000370225
  gene symbol: ABCA4
  hgvsc: ENST00000370225.3:c.5018+29C>A
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000460514
  gene symbol: ABCA4
  hgvsc: ENST00000460514.1:n.512+29C>A
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000470771
  gene symbol: ABCA4
  hgvsc: ENST00000470771.1:n.128+29C>A
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8944
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
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genotype depth: GenotypeDepth
  all individuals: 2842
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 7988
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum

1-94486768-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94486768
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94486768
    reference: chr 1
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000470771
  gene symbol: ABCA4
  hgvsc: ENST00000470771.1:n.128+28A>G
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000359245
  ensembl transcript: ENST00000370225
  gene symbol: ABCA4
  hgvsc: ENST00000370225.3:c.5018+28A>G
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000460514
  gene symbol: ABCA4
  hgvsc: ENST00000460514.1:n.512+28A>G
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7989
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2842
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8061
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5224
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genotype depth: GenotypeDepth
  all individuals: 917
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1973
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8943
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 998
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6064
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4316
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1732
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6156
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2028
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4240
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3732
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP

1-94486769-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94486769
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94486769
    reference: chr 1
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000470771
  gene symbol: ABCA4
  hgvsc: ENST00000470771.1:n.128+27C>T
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000460514
  gene symbol: ABCA4
  hgvsc: ENST00000460514.1:n.512+27C>T
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000359245
  ensembl transcript: ENST00000370225
  gene symbol: ABCA4
  hgvsc: ENST00000370225.3:c.5018+27C>T
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1973
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5224
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7988
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genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4317
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8943
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2842
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  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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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3831
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2246
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3732
  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3956
  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 34507
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff

1-94486773-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94486773
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94486773
    reference: chr 1
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000460514
  gene symbol: ABCA4
  hgvsc: ENST00000460514.1:n.512+23T>C
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000359245
  ensembl transcript: ENST00000370225
  gene symbol: ABCA4
  hgvsc: ENST00000370225.3:c.5018+23T>C
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000470771
  gene symbol: ABCA4
  hgvsc: ENST00000470771.1:n.128+23T>C
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8696
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8945
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4316
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7988
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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: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2842
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6062
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1730
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8063
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 2031
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 0
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum

1-94486774-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94486774
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94486774
    reference: chr 1
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000470771
  gene symbol: ABCA4
  hgvsc: ENST00000470771.1:n.128+22C>T
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000460514
  gene symbol: ABCA4
  hgvsc: ENST00000460514.1:n.512+22C>T
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000359245
  ensembl transcript: ENST00000370225
  gene symbol: ABCA4
  hgvsc: ENST00000370225.3:c.5018+22C>T
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8696
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  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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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1729
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1972
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genotype depth: GenotypeDepth
  all individuals: 998
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 3832
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num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

1-94486776-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94486776
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94486776
    reference: chr 1
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000460514
  gene symbol: ABCA4
  hgvsc: ENST00000460514.1:n.512+20G>A
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000359245
  ensembl transcript: ENST00000370225
  gene symbol: ABCA4
  hgvsc: ENST00000370225.3:c.5018+20G>A
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000470771
  gene symbol: ABCA4
  hgvsc: ENST00000470771.1:n.128+20G>A
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1728
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8944
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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: 2842
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genotype depth: GenotypeDepth
  all individuals: 1377
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1972
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4242
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6158
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34505
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2246
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3833
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2031
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3956
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: Latino
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

1-94486781-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94486781
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94486781
    reference: chr 1
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000470771
  gene symbol: ABCA4
  hgvsc: ENST00000470771.1:n.128+15C>T
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000359245
  ensembl transcript: ENST00000370225
  gene symbol: ABCA4
  hgvsc: ENST00000370225.3:c.5018+15C>T
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000460514
  gene symbol: ABCA4
  hgvsc: ENST00000460514.1:n.512+15C>T
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5225
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4315
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8065
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
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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: 7989
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genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 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
  all individuals: 536
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1727
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4242
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 2246
  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: 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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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3955
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

1-94486781-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94486781
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94486781
    reference: chr 1
allele count: 2
allele frequency: 1.647283629295292e-5
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000359245
  ensembl transcript: ENST00000370225
  gene symbol: ABCA4
  hgvsc: ENST00000370225.3:c.5018+15C>A
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000470771
  gene symbol: ABCA4
  hgvsc: ENST00000470771.1:n.128+15C>A
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000460514
  gene symbol: ABCA4
  hgvsc: ENST00000460514.1:n.512+15C>A
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4315
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6064
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8065
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5225
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2842
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7989
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1727
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2246
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34505
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  variant carriers: 2
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4242
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

1-94486788-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94486788
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94486788
    reference: chr 1
allele count: 117
allele frequency: 9.636609231377459e-4
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000460514
  gene symbol: ABCA4
  hgvsc: ENST00000460514.1:n.512+8A>G
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000470771
  gene symbol: ABCA4
  hgvsc: ENST00000470771.1:n.128+8A>G
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: true
  clinical significance: benign
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000359245
  ensembl transcript: ENST00000370225
  gene symbol: ABCA4
  hgvsc: ENST00000370225.3:c.5018+8A>G
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4315
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7988
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
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
  all individuals: 2842
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 9.75e1
  variant carriers: 103
genotype depth: GenotypeDepth
  all individuals: 8945
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 696
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1970
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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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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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
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  variant carriers: 0
hgvs: c.5018+8A>G
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-94486797-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94486797
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94486797
    reference: chr 1
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000359245
  ensembl transcript: ENST00000370225
  gene symbol: ABCA4
  hgvsc: ENST00000370225.3:c.5017G>A
  hgvsp: ENSP00000359245.3:p.Val1673Met
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000470771
  gene symbol: ABCA4
  hgvsc: ENST00000470771.1:n.127G>A
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000460514
  gene symbol: ABCA4
  hgvsc: ENST00000460514.1:n.511G>A
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8081
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2842
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1638
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  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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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2247
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2039
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val1673Met
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: MQ
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

1-94486798-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94486798
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94486798
    reference: chr 1
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000359245
  ensembl transcript: ENST00000370225
  gene symbol: ABCA4
  hgvsc: ENST00000370225.3:c.5016A>G
  hgvsp: ENST00000370225.3:c.5016A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000470771
  gene symbol: ABCA4
  hgvsc: ENST00000470771.1:n.126A>G
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000460514
  gene symbol: ABCA4
  hgvsc: ENST00000460514.1:n.510A>G
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2842
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4323
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6074
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5237
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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: 3.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8959
  bin: 4.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 338
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 7.25e1
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genotype depth: GenotypeDepth
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  bin: 2.5e0
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genotype depth: GenotypeDepth
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  bin: 1.25e1
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genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 8.75e1
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 2247
  bin: 8.75e1
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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
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: c.5016A>G
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: FS
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

http://identifiers.org/exac.variant/1-94486801-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94486801
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94486801
    reference: chr 1
allele count: 2
allele frequency: 1.647283629295292e-5
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000470771
  gene symbol: ABCA4
  hgvsc: ENST00000470771.1:n.123T>G
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000359245
  ensembl transcript: ENST00000370225
  gene symbol: ABCA4
  hgvsc: ENST00000370225.3:c.5013T>G
  hgvsp: ENSP00000359245.3:p.Ile1671Met
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000460514
  gene symbol: ABCA4
  hgvsc: ENST00000460514.1:n.507T>G
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8081
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4323
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8959
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8716
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2842
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 535
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7997
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5239
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6074
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1636
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3957
  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: 0
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genotype quality: GenotypeQuality
  all individuals: 34447
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  variant carriers: 2
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 6182
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4256
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ile1671Met
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

1-94486808-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94486808
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94486808
    reference: chr 1
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000359245
  ensembl transcript: ENST00000370225
  gene symbol: ABCA4
  hgvsc: ENST00000370225.3:c.5006C>T
  hgvsp: ENSP00000359245.3:p.Ser1669Leu
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000470771
  gene symbol: ABCA4
  hgvsc: ENST00000470771.1:n.116C>T
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000460514
  gene symbol: ABCA4
  hgvsc: ENST00000460514.1:n.500C>T
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8716
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6074
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8080
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7997
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 4323
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8960
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genotype depth: GenotypeDepth
  all individuals: 1636
  bin: 9.75e1
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genotype depth: GenotypeDepth
  all individuals: 2841
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2041
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 3842
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ser1669Leu
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

1-94486814-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94486814
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94486814
    reference: chr 1
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000470771
  gene symbol: ABCA4
  hgvsc: ENST00000470771.1:n.110A>G
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000460514
  gene symbol: ABCA4
  hgvsc: ENST00000460514.1:n.494A>G
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000359245
  ensembl transcript: ENST00000370225
  gene symbol: ABCA4
  hgvsc: ENST00000370225.3:c.5000A>G
  hgvsp: ENSP00000359245.3:p.Gln1667Arg
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8960
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 5240
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genotype depth: GenotypeDepth
  all individuals: 8716
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genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.75e1
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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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  bin: 8.25e1
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genotype depth: GenotypeDepth
  all individuals: 534
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.25e1
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genotype depth: GenotypeDepth
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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
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: 3842
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gln1667Arg
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

1-94486815-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94486815
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94486815
    reference: chr 1
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000470771
  gene symbol: ABCA4
  hgvsc: ENST00000470771.1:n.109C>A
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000359245
  ensembl transcript: ENST00000370225
  gene symbol: ABCA4
  hgvsc: ENST00000370225.3:c.4999C>A
  hgvsp: ENSP00000359245.3:p.Gln1667Lys
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000460514
  gene symbol: ABCA4
  hgvsc: ENST00000460514.1:n.493C>A
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8960
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2841
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
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genotype depth: GenotypeDepth
  all individuals: 1970
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 926
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8080
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7997
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 3841
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4256
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 2040
  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34444
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3734
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gln1667Lys
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/1-94486816-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94486816
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94486816
    reference: chr 1
allele count: 2
allele frequency: 1.647310765175851e-5
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000359245
  ensembl transcript: ENST00000370225
  gene symbol: ABCA4
  hgvsc: ENST00000370225.3:c.4998G>T
  hgvsp: ENSP00000359245.3:p.Glu1666Asp
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000460514
  gene symbol: ABCA4
  hgvsc: ENST00000460514.1:n.492G>T
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000470771
  gene symbol: ABCA4
  hgvsc: ENST00000470771.1:n.108G>T
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6074
  bin: 5.25e1
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genotype depth: GenotypeDepth
  all individuals: 8078
  bin: 3.25e1
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genotype depth: GenotypeDepth
  all individuals: 534
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4323
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genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 8959
  bin: 4.25e1
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genotype depth: GenotypeDepth
  all individuals: 2841
  bin: 6.25e1
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genotype depth: GenotypeDepth
  all individuals: 1970
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 8.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 998
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genotype depth: GenotypeDepth
  all individuals: 338
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genotype depth: GenotypeDepth
  all individuals: 0
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genotype depth: GenotypeDepth
  all individuals: 928
  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
  all individuals: 3841
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3957
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 34442
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  variant carriers: 2
hgvs: p.Glu1666Asp
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/1-94486818-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94486818
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94486818
    reference: chr 1
allele count: 2
allele frequency: 1.647283629295292e-5
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000470771
  gene symbol: ABCA4
  hgvsc: ENST00000470771.1:n.106G>T
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000460514
  gene symbol: ABCA4
  hgvsc: ENST00000460514.1:n.490G>T
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000359245
  ensembl transcript: ENST00000370225
  gene symbol: ABCA4
  hgvsc: ENST00000370225.3:c.4996G>T
  hgvsp: ENSP00000359245.3:p.Glu1666Ter
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
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genotype depth: GenotypeDepth
  all individuals: 0
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genotype depth: GenotypeDepth
  all individuals: 6075
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1377
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genotype depth: GenotypeDepth
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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: 1633
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genotype depth: GenotypeDepth
  all individuals: 8717
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genotype depth: GenotypeDepth
  all individuals: 1970
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genotype depth: GenotypeDepth
  all individuals: 2841
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genotype depth: GenotypeDepth
  all individuals: 8079
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genotype depth: GenotypeDepth
  all individuals: 0
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genotype depth: GenotypeDepth
  all individuals: 338
  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 7997
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genotype depth: GenotypeDepth
  all individuals: 534
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genotype depth: GenotypeDepth
  all individuals: 4323
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 0
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  variant carriers: 0
hgvs: p.Glu1666Ter
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: Latino
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ

1-94486818-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94486818
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94486818
    reference: chr 1
allele count: 12
allele frequency: 9.883701775771753e-5
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000470771
  gene symbol: ABCA4
  hgvsc: ENST00000470771.1:n.106G>A
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000460514
  gene symbol: ABCA4
  hgvsc: ENST00000460514.1:n.490G>A
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000359245
  ensembl transcript: ENST00000370225
  gene symbol: ABCA4
  hgvsc: ENST00000370225.3:c.4996G>A
  hgvsp: ENSP00000359245.3:p.Glu1666Lys
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8960
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7997
  bin: 4.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 696
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genotype depth: GenotypeDepth
  all individuals: 8717
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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: 1377
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genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 6075
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 2841
  bin: 6.25e1
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genotype depth: GenotypeDepth
  all individuals: 1970
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genotype depth: GenotypeDepth
  all individuals: 4323
  bin: 5.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 929
  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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genotype quality: GenotypeQuality
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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: 6184
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genotype quality: GenotypeQuality
  all individuals: 2248
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Glu1666Lys
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-94486839-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94486839
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94486839
    reference: chr 1
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000460514
  gene symbol: ABCA4
  hgvsc: ENST00000460514.1:n.469C>G
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000470771
  gene symbol: ABCA4
  hgvsc: ENST00000470771.1:n.85C>G
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000359245
  ensembl transcript: ENST00000370225
  gene symbol: ABCA4
  hgvsc: ENST00000370225.3:c.4975C>G
  hgvsp: ENSP00000359245.3:p.Gln1659Glu
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6076
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1620
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5238
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7999
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4323
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2842
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8719
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8961
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8080
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3733
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34435
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2247
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2041
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3960
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6178
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3841
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gln1659Glu
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

1-94486842-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94486842
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94486842
    reference: chr 1
allele count: 2
allele frequency: 1.647365039619129e-5
allele num: 121406
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000359245
  ensembl transcript: ENST00000370225
  gene symbol: ABCA4
  hgvsc: ENST00000370225.3:c.4972A>C
  hgvsp: ENSP00000359245.3:p.Ser1658Arg
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000460514
  gene symbol: ABCA4
  hgvsc: ENST00000460514.1:n.466A>C
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000470771
  gene symbol: ABCA4
  hgvsc: ENST00000470771.1:n.82A>C
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8961
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8718
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7998
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1619
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8078
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5240
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2843
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4323
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6077
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3731
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6185
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2247
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3960
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4258
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2040
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3840
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ser1658Arg
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: VQSLOD

1-94486848-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94486848
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94486848
    reference: chr 1
allele count: 2
allele frequency: 1.647337901950448e-5
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000460514
  gene symbol: ABCA4
  hgvsc: ENST00000460514.1:n.460G>A
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000359245
  ensembl transcript: ENST00000370225
  gene symbol: ABCA4
  hgvsc: ENST00000370225.3:c.4966G>A
  hgvsp: ENSP00000359245.3:p.Val1656Ile
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000470771
  gene symbol: ABCA4
  hgvsc: ENST00000470771.1:n.76G>A
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4323
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8001
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8963
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2842
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8078
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8718
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5236
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6075
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3839
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3957
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4258
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2039
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2247
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3729
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34434
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6188
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Val1656Ile
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum

1-94486849-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94486849
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94486849
    reference: chr 1
allele count: 5
allele frequency: 4.11834475487612e-5
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000460514
  gene symbol: ABCA4
  hgvsc: ENST00000460514.1:n.459C>T
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000359245
  ensembl transcript: ENST00000370225
  gene symbol: ABCA4
  hgvsc: ENST00000370225.3:c.4965C>T
  hgvsp: ENST00000370225.3:c.4965C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000470771
  gene symbol: ABCA4
  hgvsc: ENST00000470771.1:n.75C>T
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4323
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8718
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8080
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6075
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8003
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8963
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2842
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5233
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3728
  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
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genotype quality: GenotypeQuality
  all individuals: 1
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genotype quality: GenotypeQuality
  all individuals: 2247
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2039
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genotype quality: GenotypeQuality
  all individuals: 6189
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genotype quality: GenotypeQuality
  all individuals: 4257
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genotype quality: GenotypeQuality
  all individuals: 3958
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genotype quality: GenotypeQuality
  all individuals: 3
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34435
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Thr1655Thr
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD

1-94486863-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94486863
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94486863
    reference: chr 1
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000460514
  gene symbol: ABCA4
  hgvsc: ENST00000460514.1:n.445G>A
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000359245
  ensembl transcript: ENST00000370225
  gene symbol: ABCA4
  hgvsc: ENST00000370225.3:c.4951G>A
  hgvsp: ENSP00000359245.3:p.Glu1651Lys
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000470771
  gene symbol: ABCA4
  hgvsc: ENST00000470771.1:n.61G>A
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8078
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8964
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5227
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8715
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2841
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8001
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6076
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2038
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6185
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34433
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4257
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3836
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3724
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2245
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Glu1651Lys
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP

1-94486866-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94486866
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94486866
    reference: chr 1
allele count: 2
allele frequency: 1.647446457990115e-5
allele num: 121400
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000359245
  ensembl transcript: ENST00000370225
  gene symbol: ABCA4
  hgvsc: ENST00000370225.3:c.4948G>A
  hgvsp: ENSP00000359245.3:p.Glu1650Lys
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000460514
  gene symbol: ABCA4
  hgvsc: ENST00000460514.1:n.442G>A
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000470771
  gene symbol: ABCA4
  hgvsc: ENST00000470771.1:n.58G>A
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5227
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8000
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4323
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2842
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8076
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8717
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6076
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1611
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8965
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3834
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2245
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34433
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2037
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3723
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3956
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6187
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Glu1650Lys
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

1-94486867-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94486867
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94486867
    reference: chr 1
allele count: 4
allele frequency: 3.294730079238259e-5
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000470771
  gene symbol: ABCA4
  hgvsc: ENST00000470771.1:n.57C>T
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000359245
  ensembl transcript: ENST00000370225
  gene symbol: ABCA4
  hgvsc: ENST00000370225.3:c.4947C>T
  hgvsp: ENST00000370225.3:c.4947C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000460514
  gene symbol: ABCA4
  hgvsc: ENST00000460514.1:n.441C>T
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8001
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8966
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2841
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8719
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5229
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8074
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6076
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4323
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3957
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6191
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genotype quality: GenotypeQuality
  all individuals: 3833
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4256
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 1
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 5
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34432
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2246
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro1649Pro
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP

1-94486875-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94486875
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94486875
    reference: chr 1
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000470771
  gene symbol: ABCA4
  hgvsc: ENST00000470771.1:n.49A>G
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000460514
  gene symbol: ABCA4
  hgvsc: ENST00000460514.1:n.433A>G
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000359245
  ensembl transcript: ENST00000370225
  gene symbol: ABCA4
  hgvsc: ENST00000370225.3:c.4939A>G
  hgvsp: ENSP00000359245.3:p.Arg1647Gly
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8001
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5215
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2841
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8966
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8075
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8718
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6077
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4323
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3957
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 3831
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34431
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 6198
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genotype quality: GenotypeQuality
  all individuals: 3722
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2034
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genotype quality: GenotypeQuality
  all individuals: 0
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2246
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg1647Gly
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

1-94486879-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94486879
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94486879
    reference: chr 1
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000359245
  ensembl transcript: ENST00000370225
  gene symbol: ABCA4
  hgvsc: ENST00000370225.3:c.4935G>C
  hgvsp: ENSP00000359245.3:p.Lys1645Asn
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000470771
  gene symbol: ABCA4
  hgvsc: ENST00000470771.1:n.45G>C
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000460514
  gene symbol: ABCA4
  hgvsc: ENST00000460514.1:n.429G>C
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4323
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8001
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2840
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6077
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8716
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5211
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8074
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8967
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3721
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2034
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3830
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6188
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34428
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3955
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4256
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2246
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Lys1645Asn
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD

1-94486885-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94486885
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94486885
    reference: chr 1
allele count: 3
allele frequency: 2.471169686985173e-5
allele num: 121400
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000460514
  gene symbol: ABCA4
  hgvsc: ENST00000460514.1:n.423G>C
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000359245
  ensembl transcript: ENST00000370225
  gene symbol: ABCA4
  hgvsc: ENST00000370225.3:c.4929G>C
  hgvsp: ENST00000370225.3:c.4929G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000470771
  gene symbol: ABCA4
  hgvsc: ENST00000470771.1:n.39G>C
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8069
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8717
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6077
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8968
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5210
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8001
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2840
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2031
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3954
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2246
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4256
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3719
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34426
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6192
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu1643Leu
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

1-94486886-AGGCT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94486886
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94486882
    reference: chr 1
allele count: 2
allele frequency: 1.647392178181938e-5
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000460514
  gene symbol: ABCA4
  hgvsc: ENST00000460514.1:n.418_421delAGCC
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000359245
  ensembl transcript: ENST00000370225
  gene symbol: ABCA4
  hgvsc: ENST00000370225.3:c.4924_4927delAGCC
  hgvsp: ENSP00000359245.3:p.Ser1642CysfsTer19
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000470771
  gene symbol: ABCA4
  hgvsc: ENST00000470771.1:n.34_37delAGCC
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4323
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6077
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8070
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8717
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5211
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8969
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2841
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8000
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6194
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4257
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2246
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3956
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3829
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2033
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3718
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser1642CysfsTer19
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: AGGCT
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-94486887-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94486887
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94486887
    reference: chr 1
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000470771
  gene symbol: ABCA4
  hgvsc: ENST00000470771.1:n.37C>G
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000359245
  ensembl transcript: ENST00000370225
  gene symbol: ABCA4
  hgvsc: ENST00000370225.3:c.4927C>G
  hgvsp: ENSP00000359245.3:p.Leu1643Val
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000460514
  gene symbol: ABCA4
  hgvsc: ENST00000460514.1:n.421C>G
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4323
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5208
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8968
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8717
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2840
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8071
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6077
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8000
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34428
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3829
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2034
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6185
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2246
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4257
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3955
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3718
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu1643Val
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD

1-94486888-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94486888
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94486888
    reference: chr 1
allele count: 4
allele frequency: 3.294784356363876e-5
allele num: 121404
alternate allele: C
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000470771
  gene symbol: ABCA4
  hgvsc: ENST00000470771.1:n.36C>G
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000359245
  ensembl transcript: ENST00000370225
  gene symbol: ABCA4
  hgvsc: ENST00000370225.3:c.4926C>G
  hgvsp: ENSP00000359245.3:p.Ser1642Arg
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000460514
  gene symbol: ABCA4
  hgvsc: ENST00000460514.1:n.420C>G
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8968
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4323
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2840
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5209
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8000
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8717
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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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: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 6178
  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3955
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser1642Arg
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ

http://identifiers.org/exac.variant/1-94486889-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94486889
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94486889
    reference: chr 1
allele count: 148
allele frequency: 1.219150548617747e-3
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000470771
  gene symbol: ABCA4
  hgvsc: ENST00000470771.1:n.35G>T
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000460514
  gene symbol: ABCA4
  hgvsc: ENST00000460514.1:n.419G>T
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000359245
  ensembl transcript: ENST00000370225
  gene symbol: ABCA4
  hgvsc: ENST00000370225.3:c.4925G>T
  hgvsp: ENSP00000359245.3:p.Ser1642Ile
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2840
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6077
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4322
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 120
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 11
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8716
  bin: 3.75e1
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genotype depth: GenotypeDepth
  all individuals: 994
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  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1970
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 147
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2245
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genotype quality: GenotypeQuality
  all individuals: 2034
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser1642Ile
num of homozygotes: 1
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

1-94486895-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94486895
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94486895
    reference: chr 1
allele count: 7
allele frequency: 5.766157597324503e-5
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000460514
  gene symbol: ABCA4
  hgvsc: ENST00000460514.1:n.413G>A
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000470771
  gene symbol: ABCA4
  hgvsc: ENST00000470771.1:n.29G>A
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000359245
  ensembl transcript: ENST00000370225
  gene symbol: ABCA4
  hgvsc: ENST00000370225.3:c.4919G>A
  hgvsp: ENSP00000359245.3:p.Arg1640Gln
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8011
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5224
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genotype depth: GenotypeDepth
  all individuals: 17
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8085
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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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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4331
  bin: 5.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 992
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
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genotype depth: GenotypeDepth
  all individuals: 1484
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genotype depth: GenotypeDepth
  all individuals: 8725
  bin: 3.75e1
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genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 7.25e1
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genotype depth: GenotypeDepth
  all individuals: 1978
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 6196
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg1640Gln
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

1-94486896-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94486896
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94486896
    reference: chr 1
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000460514
  gene symbol: ABCA4
  hgvsc: ENST00000460514.1:n.412C>T
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000470771
  gene symbol: ABCA4
  hgvsc: ENST00000470771.1:n.28C>T
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000359245
  ensembl transcript: ENST00000370225
  gene symbol: ABCA4
  hgvsc: ENST00000370225.3:c.4918C>T
  hgvsp: ENSP00000359245.3:p.Arg1640Trp
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8726
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6089
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2849
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1978
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 9.25e1
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genotype depth: GenotypeDepth
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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
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 10
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2253
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg1640Trp
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

1-94486900-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94486900
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94486900
    reference: chr 1
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000470771
  gene symbol: ABCA4
  hgvsc: ENST00000470771.1:n.24C>A
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000460514
  gene symbol: ABCA4
  hgvsc: ENST00000460514.1:n.408C>A
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000359245
  ensembl transcript: ENST00000370225
  gene symbol: ABCA4
  hgvsc: ENST00000370225.3:c.4914C>A
  hgvsp: ENST00000370225.3:c.4914C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5222
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6089
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4331
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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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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genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3955
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2034
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6207
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2251
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34348
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3839
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4270
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3715
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ile1638Ile
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

1-94486903-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94486903
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94486903
    reference: chr 1
allele count: 2
allele frequency: 1.647636465490254e-5
allele num: 121386
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000470771
  gene symbol: ABCA4
  hgvsc: ENST00000470771.1:n.21C>T
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000460514
  gene symbol: ABCA4
  hgvsc: ENST00000460514.1:n.405C>T
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000359245
  ensembl transcript: ENST00000370225
  gene symbol: ABCA4
  hgvsc: ENST00000370225.3:c.4911C>T
  hgvsp: ENST00000370225.3:c.4911C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8011
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5210
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2849
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8988
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1978
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4331
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1474
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8725
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8083
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6089
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2033
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4271
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34347
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3715
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3840
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6189
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3955
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala1637Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

1-94486905-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94486905
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94486905
    reference: chr 1
allele count: 10
allele frequency: 8.238453806989504e-5
allele num: 121382
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000460514
  gene symbol: ABCA4
  hgvsc: ENST00000460514.1:n.403G>A
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000359245
  ensembl transcript: ENST00000370225
  gene symbol: ABCA4
  hgvsc: ENST00000370225.3:c.4909G>A
  hgvsp: ENSP00000359245.3:p.Ala1637Thr
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000470771
  gene symbol: ABCA4
  hgvsc: ENST00000470771.1:n.19G>A
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4331
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5208
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8724
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8989
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1473
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 8082
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6089
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8012
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1978
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2849
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2251
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3836
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3954
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6189
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3712
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4270
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala1637Thr
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: DP

1-94486906-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94486906
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94486906
    reference: chr 1
allele count: 6
allele frequency: 4.943072284193702e-5
allele num: 121382
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000460514
  gene symbol: ABCA4
  hgvsc: ENST00000460514.1:n.402C>T
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000359245
  ensembl transcript: ENST00000370225
  gene symbol: ABCA4
  hgvsc: ENST00000370225.3:c.4908C>T
  hgvsp: ENST00000370225.3:c.4908C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000470771
  gene symbol: ABCA4
  hgvsc: ENST00000470771.1:n.18C>T
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4331
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8081
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1464
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5214
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6090
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2849
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1978
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8011
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8724
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8994
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
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genotype quality: GenotypeQuality
  all individuals: 20
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3712
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 2
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2253
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genotype quality: GenotypeQuality
  all individuals: 34338
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 3954
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6206
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4273
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2033
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asn1636Asn
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD

1-94486919-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94486919
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94486919
    reference: chr 1
allele count: 1
allele frequency: 8.240626287597857e-6
allele num: 121350
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000470771
  gene symbol: ABCA4
  hgvsc: ENST00000470771.1:n.5A>G
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000460514
  gene symbol: ABCA4
  hgvsc: ENST00000460514.1:n.389A>G
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000359245
  ensembl transcript: ENST00000370225
  gene symbol: ABCA4
  hgvsc: ENST00000370225.3:c.4895A>G
  hgvsp: ENSP00000359245.3:p.Asn1632Ser
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5172
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4330
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8012
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8080
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6090
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8992
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8723
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1978
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1459
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2849
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2031
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4271
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3709
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2251
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asn1632Ser
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: Latino
population: East Asian
reference allele: T
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/1-94486933-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94486933
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94486932
    reference: chr 1
allele count: 1
allele frequency: 8.243887157672586e-6
allele num: 121302
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000460514
  gene symbol: ABCA4
  hgvsc: ENST00000460514.1:n.374delT
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000359245
  ensembl transcript: ENST00000370225
  gene symbol: ABCA4
  hgvsc: ENST00000370225.3:c.4880delT
  hgvsp: ENSP00000359245.3:p.Leu1627ArgfsTer35
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1458
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8991
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genotype depth: GenotypeDepth
  all individuals: 53
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genotype depth: GenotypeDepth
  all individuals: 60
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 8062
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1382
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1978
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8013
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 4271
  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 2249
  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 49
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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: 34331
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3806
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu1627ArgfsTer35
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.49947518368571e-5
  allele num: 66690
  num of homozygotes: 0
population: African
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: CA
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: QD

1-94486945-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94486945
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94486945
    reference: chr 1
allele count: 1
allele frequency: 8.247694769311978e-6
allele num: 121246
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000460514
  gene symbol: ABCA4
  hgvsc: ENST00000460514.1:n.363C>T
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000359245
  ensembl transcript: ENST00000370225
  gene symbol: ABCA4
  hgvsc: ENST00000370225.3:c.4869C>T
  hgvsp: ENST00000370225.3:c.4869C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8705
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8988
  bin: 4.25e1
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genotype depth: GenotypeDepth
  all individuals: 59
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genotype depth: GenotypeDepth
  all individuals: 1382
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2849
  bin: 6.25e1
  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
  all individuals: 8023
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1978
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4330
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6089
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2008
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 3787
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 4269
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 22
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 14
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genotype quality: GenotypeQuality
  all individuals: 138
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly1623Gly
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum

1-94486953-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94486953
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94486953
    reference: chr 1
allele count: 1
allele frequency: 8.250552787036732e-6
allele num: 121204
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000460514
  gene symbol: ABCA4
  hgvsc: ENST00000460514.1:n.355A>T
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000359245
  ensembl transcript: ENST00000370225
  gene symbol: ABCA4
  hgvsc: ENST00000370225.3:c.4861A>T
  hgvsp: ENSP00000359245.3:p.Asn1621Tyr
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8701
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 5023
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genotype depth: GenotypeDepth
  all individuals: 2849
  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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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.25e1
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genotype depth: GenotypeDepth
  all individuals: 531
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 329
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6028
  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4269
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genotype quality: GenotypeQuality
  all individuals: 14
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  variant carriers: 0
hgvs: p.Asn1621Tyr
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/1-94486954-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94486954
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94486954
    reference: chr 1
allele count: 1
allele frequency: 8.251369727374745e-6
allele num: 121192
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000359245
  ensembl transcript: ENST00000370225
  gene symbol: ABCA4
  hgvsc: ENST00000370225.3:c.4860T>G
  hgvsp: ENSP00000359245.3:p.Asn1620Lys
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000460514
  gene symbol: ABCA4
  hgvsc: ENST00000460514.1:n.354T>G
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
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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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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1978
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3772
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4269
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asn1620Lys
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10272
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff

1-94486960-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94486960
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94486960
    reference: chr 1
allele count: 2
allele frequency: 1.650818806127839e-5
allele num: 121152
alternate allele: T
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: stop_gained
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000359245
  ensembl transcript: ENST00000370225
  gene symbol: ABCA4
  hgvsc: ENST00000370225.3:c.4854G>A
  hgvsp: ENSP00000359245.3:p.Trp1618Ter
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000460514
  gene symbol: ABCA4
  hgvsc: ENST00000460514.1:n.348G>A
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8701
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6089
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8984
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8012
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1978
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4941
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2849
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4330
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7983
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2000
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2248
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3682
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4267
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5898
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3754
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3939
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34326
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Trp1618Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: East Asian
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ

1-94486960-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94486960
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94486960
    reference: chr 1
allele count: 3
allele frequency: 2.476228209191759e-5
allele num: 121152
alternate allele: G
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000460514
  gene symbol: ABCA4
  hgvsc: ENST00000460514.1:n.348G>C
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000359245
  ensembl transcript: ENST00000370225
  gene symbol: ABCA4
  hgvsc: ENST00000370225.3:c.4854G>C
  hgvsp: ENSP00000359245.3:p.Trp1618Cys
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8984
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6089
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1978
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4941
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7983
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8701
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2849
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4330
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8012
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3682
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34326
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3754
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2248
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3939
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4267
  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5898
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2000
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Trp1618Cys
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: African
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff

1-94486966-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94486966
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94486966
    reference: chr 1
allele count: 5
allele frequency: 4.128614602084125e-5
allele num: 121106
alternate allele: T
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000359245
  ensembl transcript: ENST00000370225
  gene symbol: ABCA4
  hgvsc: ENST00000370225.3:c.4849-1G>A
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000460514
  gene symbol: ABCA4
  hgvsc: ENST00000460514.1:n.343-1G>A
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6088
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8983
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4903
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8010
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2849
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1978
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7965
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8695
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4330
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2248
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
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genotype quality: GenotypeQuality
  all individuals: 5828
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genotype quality: GenotypeQuality
  all individuals: 34320
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 319
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 3676
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3748
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4267
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3941
  bin: 8.25e1
  variant carriers: 0
hgvs: c.4849-1G>A
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16504
  num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

1-94486969-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94486969
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94486969
    reference: chr 1
allele count: 2
allele frequency: 1.65169133192389e-5
allele num: 121088
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000359245
  ensembl transcript: ENST00000370225
  gene symbol: ABCA4
  hgvsc: ENST00000370225.3:c.4849-4C>T
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000460514
  gene symbol: ABCA4
  hgvsc: ENST00000460514.1:n.343-4C>T
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7947
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1978
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1453
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2849
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6088
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8010
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8985
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4330
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2248
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5746
  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 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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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3941
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1991
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4268
  bin: 9.25e1
  variant carriers: 0
hgvs: c.4849-4C>T
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11562
  num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS

1-94486971-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94486971
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94486971
    reference: chr 1
allele count: 1
allele frequency: 8.259275166011431e-6
allele num: 121076
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000460514
  gene symbol: ABCA4
  hgvsc: ENST00000460514.1:n.343-6C>T
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000359245
  ensembl transcript: ENST00000370225
  gene symbol: ABCA4
  hgvsc: ENST00000370225.3:c.4849-6C>T
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  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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genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
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genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
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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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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1978
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6088
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1452
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5770
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3941
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 2248
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34315
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3672
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1991
  bin: 7.25e1
  variant carriers: 0
hgvs: c.4849-6C>T
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8650
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

1-94486973-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94486973
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94486973
    reference: chr 1
allele count: 3
allele frequency: 2.477700693756194e-5
allele num: 121080
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000359245
  ensembl transcript: ENST00000370225
  gene symbol: ABCA4
  hgvsc: ENST00000370225.3:c.4849-8C>T
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000460514
  gene symbol: ABCA4
  hgvsc: ENST00000460514.1:n.343-8C>T
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7935
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2849
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6088
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1977
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4330
  bin: 5.75e1
  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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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 124
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genotype quality: GenotypeQuality
  all individuals: 91
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 3
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1991
  bin: 7.25e1
  variant carriers: 0
hgvs: c.4849-8C>T
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 906
  num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum

1-94486981-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94486981
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94486981
    reference: chr 1
allele count: 13
allele frequency: 1.074522250876149e-4
allele num: 120984
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000460514
  gene symbol: ABCA4
  hgvsc: ENST00000460514.1:n.343-16C>T
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000359245
  ensembl transcript: ENST00000370225
  gene symbol: ABCA4
  hgvsc: ENST00000370225.3:c.4849-16C>T
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8011
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2850
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
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  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1976
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8983
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4331
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5523
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3673
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 34310
  bin: 9.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2247
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8650
  num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-94486983-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94486983
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94486983
    reference: chr 1
allele count: 1
allele frequency: 8.265692417053776e-6
allele num: 120982
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000460514
  gene symbol: ABCA4
  hgvsc: ENST00000460514.1:n.343-18G>A
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000359245
  ensembl transcript: ENST00000370225
  gene symbol: ABCA4
  hgvsc: ENST00000370225.3:c.4849-18G>A
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8011
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2850
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4753
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4331
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 7.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 526
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1448
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1976
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8982
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2248
  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
  all individuals: 4268
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 34301
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 124
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3936
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5586
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10156
  num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff

1-94486988-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94486988
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94486988
    reference: chr 1
allele count: 1
allele frequency: 8.270477702792114e-6
allele num: 120912
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000460514
  gene symbol: ABCA4
  hgvsc: ENST00000460514.1:n.343-23C>G
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000359245
  ensembl transcript: ENST00000370225
  gene symbol: ABCA4
  hgvsc: ENST00000370225.3:c.4849-23C>G
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7847
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8669
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1976
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4661
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2850
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 329
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8011
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1964
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2247
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 3662
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5423
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3653
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3935
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4266
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34299
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 906
  num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

1-94486990-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94486990
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94486990
    reference: chr 1
allele count: 1
allele frequency: 8.271024945411235e-6
allele num: 120904
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000359245
  ensembl transcript: ENST00000370225
  gene symbol: ABCA4
  hgvsc: ENST00000370225.3:c.4849-25C>G
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000460514
  gene symbol: ABCA4
  hgvsc: ENST00000460514.1:n.343-25C>G
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8978
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7835
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4332
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1976
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2849
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1448
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8657
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 8010
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4266
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 1964
  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 34299
  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 461
  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3934
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genotype quality: GenotypeQuality
  all individuals: 19
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genotype quality: GenotypeQuality
  all individuals: 5419
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16498
  num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

1-94486992-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94486992
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94486992
    reference: chr 1
allele count: 68
allele frequency: 5.626996342452378e-4
allele num: 120846
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000359245
  ensembl transcript: ENST00000370225
  gene symbol: ABCA4
  hgvsc: ENST00000370225.3:c.4849-27G>A
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000460514
  gene symbol: ABCA4
  hgvsc: ENST00000460514.1:n.343-27G>A
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1976
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4330
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2850
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 222
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1380
  bin: 7.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8010
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
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  variant carriers: 5
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8654
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1448
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
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genotype quality: GenotypeQuality
  all individuals: 5331
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3662
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 145
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 447
  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 34302
  bin: 9.75e1
  variant carriers: 68
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
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1962
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 4
  allele frequency: 3.981684252438782e-4
  allele num: 10046
  num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

1-94486993-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94486993
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94486993
    reference: chr 1
allele count: 5
allele frequency: 4.137497310626748e-5
allele num: 120846
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000460514
  gene symbol: ABCA4
  hgvsc: ENST00000460514.1:n.343-28C>T
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000359245
  ensembl transcript: ENST00000370225
  gene symbol: ABCA4
  hgvsc: ENST00000370225.3:c.4849-28C>T
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8009
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2849
  bin: 6.25e1
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genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
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  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4620
  bin: 2.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1373
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genotype depth: GenotypeDepth
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  bin: 5.75e1
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genotype depth: GenotypeDepth
  all individuals: 1973
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4271
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genotype quality: GenotypeQuality
  all individuals: 3931
  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 69
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genotype quality: GenotypeQuality
  all individuals: 1964
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 3635
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 1
  allele frequency: 1.156336725254394e-4
  allele num: 8648
  num of homozygotes: 0
population: South Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

1-94486997-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94486997
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94486997
    reference: chr 1
allele count: 1
allele frequency: 8.279516476237788e-6
allele num: 120780
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000359245
  ensembl transcript: ENST00000370225
  gene symbol: ABCA4
  hgvsc: ENST00000370225.3:c.4849-32G>A
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000460514
  gene symbol: ABCA4
  hgvsc: ENST00000460514.1:n.343-32G>A
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8977
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 618
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1373
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 1960
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 906
  num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: QD

http://identifiers.org/exac.variant/1-94486998-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94486998
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94486998
    reference: chr 1
allele count: 1
allele frequency: 8.281299170213822e-6
allele num: 120754
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000460514
  gene symbol: ABCA4
  hgvsc: ENST00000460514.1:n.343-33T>G
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000359245
  ensembl transcript: ENST00000370225
  gene symbol: ABCA4
  hgvsc: ENST00000370225.3:c.4849-33T>G
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6083
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9968
  num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS

1-94487016-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94487016
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94487016
    reference: chr 1
allele count: 2
allele frequency: 1.659365458648613e-5
allele num: 120528
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000359245
  ensembl transcript: ENST00000370225
  gene symbol: ABCA4
  hgvsc: ENST00000370225.3:c.4849-51G>A
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000460514
  gene symbol: ABCA4
  hgvsc: ENST00000460514.1:n.343-51G>A
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 2
  allele frequency: 3.008061605101673e-5
  allele num: 66488
  num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/1-94487145-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94487145
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94487145
    reference: chr 1
allele count: 2
allele frequency: 2.082075412771451e-5
allele num: 96058
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000359245
  ensembl transcript: ENST00000370225
  gene symbol: ABCA4
  hgvsc: ENST00000370225.3:c.4848+51G>T
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000460514
  gene symbol: ABCA4
  hgvsc: ENST00000460514.1:n.342+51G>T
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11614
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8316
  num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
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site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
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site quality: ReadPosRankSum

1-94487147-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94487147
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94487147
    reference: chr 1
allele count: 13
allele frequency: 1.351323257312738e-4
allele num: 96202
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000460514
  gene symbol: ABCA4
  hgvsc: ENST00000460514.1:n.342+49C>G
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000359245
  ensembl transcript: ENST00000370225
  gene symbol: ABCA4
  hgvsc: ENST00000370225.3:c.4848+49C>G
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7046
  num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

1-94487154-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94487154
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94487154
    reference: chr 1
allele count: 24
allele frequency: 2.485398285075183e-4
allele num: 96564
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000359245
  ensembl transcript: ENST00000370225
  gene symbol: ABCA4
  hgvsc: ENST00000370225.3:c.4848+42A>G
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000460514
  gene symbol: ABCA4
  hgvsc: ENST00000460514.1:n.342+42A>G
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3612
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1780
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15326
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1647
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10296
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9623
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8331
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2859
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2294
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5579
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1282
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1300
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9502
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2407
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10325
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8091
  bin: 9.75e1
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 3922
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1004
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1473
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 977
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 888
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 730
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 8.75e1
  variant carriers: 2
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 2
  allele frequency: 2.171552660152009e-4
  allele num: 9210
  num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD

1-94487183-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94487183
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94487183
    reference: chr 1
allele count: 17
allele frequency: 1.656177542232527e-4
allele num: 102646
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000359245
  ensembl transcript: ENST00000370225
  gene symbol: ABCA4
  hgvsc: ENST00000370225.3:c.4848+13T>C
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000460514
  gene symbol: ABCA4
  hgvsc: ENST00000460514.1:n.342+13T>C
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7423
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 23807
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8800
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5644
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1992
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2399
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1620
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2375
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2963
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8098
  bin: 9.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9909
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1317
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 359
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 885
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1209
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 519
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 502
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24961
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3447
  bin: 6.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6038
  num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

1-94487228-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94487228
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94487228
    reference: chr 1
allele count: 1
allele frequency: 8.941184885821069e-6
allele num: 111842
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000359245
  ensembl transcript: ENST00000370225
  gene symbol: ABCA4
  hgvsc: ENST00000370225.3:c.4816C>T
  hgvsp: ENSP00000359245.3:p.Leu1606Phe
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000460514
  gene symbol: ABCA4
  hgvsc: ENST00000460514.1:n.310C>T
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8346
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2926
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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: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3106
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4595
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1476
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33558
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5840
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1426
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 933
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 923
  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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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 945
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8096
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Leu1606Phe
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8146
  num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ

1-94487230-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94487230
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94487230
    reference: chr 1
allele count: 3
allele frequency: 2.674798052747018e-5
allele num: 112158
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000359245
  ensembl transcript: ENST00000370225
  gene symbol: ABCA4
  hgvsc: ENST00000370225.3:c.4814T>A
  hgvsp: ENSP00000359245.3:p.Phe1605Tyr
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000460514
  gene symbol: ABCA4
  hgvsc: ENST00000460514.1:n.308T>A
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30246
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2797
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 3.75e1
  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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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1441
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 8095
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 448
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genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1483
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Phe1605Tyr
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 3
  allele frequency: 1.923816852635629e-4
  allele num: 15594
  num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

1-94487236-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94487236
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94487236
    reference: chr 1
allele count: 1
allele frequency: 8.872169777840869e-6
allele num: 112712
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000359245
  ensembl transcript: ENST00000370225
  gene symbol: ABCA4
  hgvsc: ENST00000370225.3:c.4808C>T
  hgvsp: ENSP00000359245.3:p.Pro1603Leu
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000460514
  gene symbol: ABCA4
  hgvsc: ENST00000460514.1:n.302C>T
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4193
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1650
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3180
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  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: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
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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
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genotype quality: GenotypeQuality
  all individuals: 33418
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 9.25e1
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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: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8096
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5668
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro1603Leu
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 61738
  num of homozygotes: 0
population: Other
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff

1-94487236-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94487236
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94487236
    reference: chr 1
allele count: 1
allele frequency: 8.872169777840869e-6
allele num: 112712
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000359245
  ensembl transcript: ENST00000370225
  gene symbol: ABCA4
  hgvsc: ENST00000370225.3:c.4808C>G
  hgvsp: ENSP00000359245.3:p.Pro1603Arg
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000460514
  gene symbol: ABCA4
  hgvsc: ENST00000460514.1:n.302C>G
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3180
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8627
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
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genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 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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  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1444
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro1603Arg
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10786
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

1-94487246-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94487246
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94487246
    reference: chr 1
allele count: 1
allele frequency: 8.817098116667842e-6
allele num: 113416
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000359245
  ensembl transcript: ENST00000370225
  gene symbol: ABCA4
  hgvsc: ENST00000370225.3:c.4798A>G
  hgvsp: ENSP00000359245.3:p.Lys1600Glu
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000460514
  gene symbol: ABCA4
  hgvsc: ENST00000460514.1:n.292A>G
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 6.25e1
  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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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  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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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33295
  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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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 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: 8095
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Lys1600Glu
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6390
  num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum

1-94487250-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94487250
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94487250
    reference: chr 1
allele count: 3
allele frequency: 2.6398690624945e-5
allele num: 113642
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000460514
  gene symbol: ABCA4
  hgvsc: ENST00000460514.1:n.288C>T
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000359245
  ensembl transcript: ENST00000370225
  gene symbol: ABCA4
  hgvsc: ENST00000370225.3:c.4794C>T
  hgvsp: ENST00000370225.3:c.4794C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29433
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3734
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
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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
  all individuals: 546
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genotype quality: GenotypeQuality
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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: 5952
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genotype quality: GenotypeQuality
  all individuals: 8100
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Ala1598Ala
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9136
  num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS

1-94487251-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94487251
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94487251
    reference: chr 1
allele count: 3
allele frequency: 2.6391723555493e-5
allele num: 113672
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000460514
  gene symbol: ABCA4
  hgvsc: ENST00000460514.1:n.287C>A
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000359245
  ensembl transcript: ENST00000370225
  gene symbol: ABCA4
  hgvsc: ENST00000370225.3:c.4793C>A
  hgvsp: ENSP00000359245.3:p.Ala1598Asp
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3287
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2283
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9065
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4340
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 904
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5971
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1473
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 975
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8098
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33327
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1514
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 954
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala1598Asp
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: Latino
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD

1-94487253-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94487253
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94487253
    reference: chr 1
allele count: 1
allele frequency: 8.789354334030623e-6
allele num: 113774
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000460514
  gene symbol: ABCA4
  hgvsc: ENST00000460514.1:n.285G>A
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000359245
  ensembl transcript: ENST00000370225
  gene symbol: ABCA4
  hgvsc: ENST00000370225.3:c.4791G>A
  hgvsp: ENST00000370225.3:c.4791G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29113
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Glu1597Glu
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 252
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5126
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6502
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4926
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3680
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.499875006249687e-5
allele num: 40002
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.06e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.51e-1

DP
type: SiteQuality
SIO_000300: 7.89666e5

VQSLOD
type: SiteQuality
SIO_000300: 1.28e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.76e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.52e-2

QD
type: SiteQuality
SIO_000300: 7.67e0

GenotypeQuality
all individuals: 463
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4916
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3520
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11292
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 540
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4492
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6332
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 5.203725867721289e-5
allele num: 38434
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.65e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.33e-1

DP
type: SiteQuality
SIO_000300: 7.77078e5

BaseQRankSum
type: SiteQuality
SIO_000300: -2.017e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.65e-2

QD
type: SiteQuality
SIO_000300: 7.32e0

VQSLOD
type: SiteQuality
SIO_000300: -4.781e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.33e-1

GenotypeQuality
all individuals: 221
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4476
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 536
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6296
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.877840909090909e-5
allele num: 11264
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3502
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38236
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.061855670103093e-4
allele num: 4850
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 7.7588e5

ClippingRankSum
type: SiteQuality
SIO_000300: -2.27e-1

FS
type: SiteQuality
SIO_000300: 2.836e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.76e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.52e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.34e0

MQRankSum
type: SiteQuality
SIO_000300: 1.02e0

QD
type: SiteQuality
SIO_000300: 1.054e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e0

GenotypeQuality
all individuals: 464
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 512
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3340
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36536
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.635590448151783e-4
allele num: 6114
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4648
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4148
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11080
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -4.0e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.23e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.75e0

DP
type: SiteQuality
SIO_000300: 7.6624e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.84e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.54e-1

QD
type: SiteQuality
SIO_000300: 1.526e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 221
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3152
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34454
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.765996680803983e-4
allele num: 10846
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4382
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3748
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5860
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 486
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.553e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.96e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.37e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.55e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.070000000000001e-1

FS
type: SiteQuality
SIO_000300: 8.44e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.52e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.070000000000001e-1

DP
type: SiteQuality
SIO_000300: 7.59321e5

GenotypeQuality
all individuals: 2247
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

African
type: Population
allele count: 9
allele frequency: 8.648856428983279e-4
allele num: 10406
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.900612e6

MQ
type: SiteQuality
SIO_000300: 5.951e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.51e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.29e0

VQSLOD
type: SiteQuality
SIO_000300: 5.25e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.23e-1

QD
type: SiteQuality
SIO_000300: 1.386e1

GenotypeQuality
all individuals: 3730
bin: 7.75e1
variant carriers: 0

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: 8654
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.396e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.65e0

FS
type: SiteQuality
SIO_000300: 3.563e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.45e0

QD
type: SiteQuality
SIO_000300: 1.595e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.1e0

MQRankSum
type: SiteQuality
SIO_000300: 4.69e-1

DP
type: SiteQuality
SIO_000300: 2.899779e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 3955
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 1.493e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.216e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.594e0

DP
type: SiteQuality
SIO_000300: 2.899728e6

VQSLOD
type: SiteQuality
SIO_000300: 9.83e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.69e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.289e1

MQRankSum
type: SiteQuality
SIO_000300: 7.58e-1

GenotypeQuality
all individuals: 34507
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.932e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.369e0

QD
type: SiteQuality
SIO_000300: 1.497e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.29e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.14e0

MQRankSum
type: SiteQuality
SIO_000300: 5.8e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.037e0

FS
type: SiteQuality
SIO_000300: 4.99e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 2.899685e6

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.911e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.537e0

QD
type: SiteQuality
SIO_000300: 7.48e0

DP
type: SiteQuality
SIO_000300: 2.899534e6

MQ
type: SiteQuality
SIO_000300: 5.879e1

FS
type: SiteQuality
SIO_000300: 3.41e0

MQRankSum
type: SiteQuality
SIO_000300: -6.820000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
all individuals: 6159
bin: 6.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.399999999999999e-3

VQSLOD
type: SiteQuality
SIO_000300: -3.207e-1

QD
type: SiteQuality
SIO_000300: 1.098e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.58e0

DP
type: SiteQuality
SIO_000300: 2.899468e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.27e0

MQ
type: SiteQuality
SIO_000300: 5.987e1

FS
type: SiteQuality
SIO_000300: 6.46e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.83e-1

MQRankSum
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Other
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East Asian
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African
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European (Finnish)
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South Asian
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European (Non-Finnish)
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InbreedingCoeff
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DP
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FS
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VQSLOD
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QD
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MQ
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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GenotypeQuality
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East Asian
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African
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European (Non-Finnish)
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European (Finnish)
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South Asian
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VQSLOD
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ClippingRankSum
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FS
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InbreedingCoeff
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ReadPosRankSum
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MQ
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MQRankSum
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DP
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BaseQRankSum
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QD
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GenotypeQuality
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East Asian
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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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European (Finnish)
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Other
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MQRankSum
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ReadPosRankSum
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DP
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QD
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VQSLOD
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MQ
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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GenotypeQuality
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East Asian
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South Asian
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African
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Latino
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European (Non-Finnish)
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Other
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European (Finnish)
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MQ
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InbreedingCoeff
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DP
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FS
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MQRankSum
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ReadPosRankSum
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VQSLOD
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QD
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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Latino
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East Asian
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European (Non-Finnish)
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MQ
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VQSLOD
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QD
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DP
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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Latino
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European (Non-Finnish)
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African
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East Asian
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South Asian
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DP
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FS
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MQRankSum
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VQSLOD
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ClippingRankSum
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QD
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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East Asian
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South Asian
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Latino
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African
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European (Non-Finnish)
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FS
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QD
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MQ
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ClippingRankSum
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DP
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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GenotypeQuality
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South Asian
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African
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East Asian
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European (Finnish)
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European (Non-Finnish)
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Latino
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ClippingRankSum
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ReadPosRankSum
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QD
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MQRankSum
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BaseQRankSum
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VQSLOD
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FS
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InbreedingCoeff
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DP
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MQ
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GenotypeQuality
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South Asian
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African
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European (Non-Finnish)
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Latino
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East Asian
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QD
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MQRankSum
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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MQ
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FS
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ReadPosRankSum
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DP
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ClippingRankSum
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GenotypeQuality
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African
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East Asian
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South Asian
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European (Finnish)
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European (Non-Finnish)
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FS
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DP
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QD
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InbreedingCoeff
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MQRankSum
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MQ
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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East Asian
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European (Finnish)
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QD
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MQRankSum
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InbreedingCoeff
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VQSLOD
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MQ
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FS
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DP
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BaseQRankSum
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GenotypeQuality
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European (Finnish)
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African
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South Asian
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East Asian
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European (Non-Finnish)
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MQ
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MQRankSum
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QD
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FS
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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DP
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GenotypeQuality
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African
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DP
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BaseQRankSum
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QD
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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FS
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MQ
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GenotypeQuality
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East Asian
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African
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European (Finnish)
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MQ
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InbreedingCoeff
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QD
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MQRankSum
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FS
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VQSLOD
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DP
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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South Asian
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Latino
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East Asian
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European (Non-Finnish)
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European (Finnish)
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African
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ClippingRankSum
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InbreedingCoeff
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FS
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MQ
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QD
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VQSLOD
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DP
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ReadPosRankSum
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BaseQRankSum
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GenotypeQuality
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Latino
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European (Finnish)
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South Asian
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African
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Other
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European (Non-Finnish)
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East Asian
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MQ
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InbreedingCoeff
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DP
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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FS
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QD
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VQSLOD
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GenotypeQuality
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East Asian
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African
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Other
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European (Non-Finnish)
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South Asian
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DP
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MQRankSum
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MQ
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BaseQRankSum
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VQSLOD
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QD
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InbreedingCoeff
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ClippingRankSum
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FS
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ReadPosRankSum
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GenotypeQuality
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East Asian
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African
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European (Non-Finnish)
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Other
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European (Finnish)
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South Asian
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VQSLOD
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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MQ
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DP
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InbreedingCoeff
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ClippingRankSum
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FS
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QD
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GenotypeQuality
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East Asian
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African
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South Asian
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Latino
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European (Non-Finnish)
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European (Finnish)
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ReadPosRankSum
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MQ
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FS
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VQSLOD
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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QD
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DP
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GenotypeQuality
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East Asian
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European (Finnish)
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Latino
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South Asian
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European (Non-Finnish)
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African
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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FS
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DP
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MQ
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MQRankSum
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InbreedingCoeff
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VQSLOD
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GenotypeQuality
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East Asian
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South Asian
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European (Non-Finnish)
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African
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European (Finnish)
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FS
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BaseQRankSum
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VQSLOD
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QD
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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MQ
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DP
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GenotypeQuality
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South Asian
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European (Finnish)
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African
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East Asian
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European (Non-Finnish)
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FS
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MQRankSum
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QD
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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DP
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InbreedingCoeff
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MQ
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ReadPosRankSum
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GenotypeQuality
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Latino
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European (Non-Finnish)
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African
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East Asian
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European (Finnish)
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InbreedingCoeff
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FS
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QD
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ReadPosRankSum
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MQRankSum
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MQ
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BaseQRankSum
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ClippingRankSum
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DP
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VQSLOD
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GenotypeQuality
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East Asian
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Other
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African
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Latino
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European (Non-Finnish)
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European (Finnish)
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South Asian
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MQ
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FS
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VQSLOD
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ReadPosRankSum
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MQRankSum
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DP
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InbreedingCoeff
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QD
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GenotypeQuality
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African
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European (Non-Finnish)
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European (Finnish)
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Latino
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East Asian
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DP
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MQRankSum
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ClippingRankSum
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QD
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VQSLOD
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FS
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BaseQRankSum
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MQ
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InbreedingCoeff
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GenotypeQuality
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East Asian
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African
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European (Finnish)
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European (Non-Finnish)
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Other
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MQ
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InbreedingCoeff
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BaseQRankSum
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QD
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DP
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FS
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ReadPosRankSum
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MQRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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East Asian
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South Asian
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African
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European (Non-Finnish)
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DP
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VQSLOD
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QD
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FS
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MQRankSum
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ClippingRankSum
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SIO_000300: -2.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.98e1

GenotypeQuality
all individuals: 3826
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 141
allele frequency: 1.355247981545559e-2
allele num: 10404
num of homozygotes: 1

Latino
type: Population
allele count: 5
allele frequency: 4.318535152876144e-4
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.996973057212216e-5
allele num: 66734
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.24e-1

DP
type: SiteQuality
SIO_000300: 2.882171e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.242e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.93e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.19e-2

FS
type: SiteQuality
SIO_000300: 5.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.0e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

QD
type: SiteQuality
SIO_000300: 1.335e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.600000000000001e-1

GenotypeQuality
all individuals: 34353
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 2036
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.495594317568783e-5
allele num: 66732
num of homozygotes: 0

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

Latino
type: Population
allele count: 3
allele frequency: 2.591121091725686e-4
allele num: 11578
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.31e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.285e1

FS
type: SiteQuality
SIO_000300: 5.3e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.08e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.39e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.61e-1

MQ
type: SiteQuality
SIO_000300: 5.987e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.34e-1

DP
type: SiteQuality
SIO_000300: 2.867585e6

GenotypeQuality
all individuals: 13
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4272
bin: 9.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498621268433042e-5
allele num: 66728
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

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: 8654
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.35e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.45e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.31e0

DP
type: SiteQuality
SIO_000300: 2.866788e6

VQSLOD
type: SiteQuality
SIO_000300: 1.35e0

FS
type: SiteQuality
SIO_000300: 8.202999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.38e-1

QD
type: SiteQuality
SIO_000300: 1.28e1

GenotypeQuality
all individuals: 14
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66728
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.966e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.758e0

QD
type: SiteQuality
SIO_000300: 9.76e0

FS
type: SiteQuality
SIO_000300: 4.789e0

VQSLOD
type: SiteQuality
SIO_000300: 6.14e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.14e-1

DP
type: SiteQuality
SIO_000300: 2.866545e6

GenotypeQuality
all individuals: 2251
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 1.923076923076923e-4
allele num: 10400
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.848e0

FS
type: SiteQuality
SIO_000300: 2.759e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.81e-1

MQ
type: SiteQuality
SIO_000300: 5.956e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.05e0

MQRankSum
type: SiteQuality
SIO_000300: -4.09e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.21e0

DP
type: SiteQuality
SIO_000300: 2.866136e6

QD
type: SiteQuality
SIO_000300: 1.416e1

GenotypeQuality
all individuals: 34346
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 2032
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.198968886757389e-4
allele num: 66724
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.923076923076923e-4
allele num: 10400
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.776e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.06e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.13e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 7.41e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.570000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.258e1

VQSLOD
type: SiteQuality
SIO_000300: 2.39e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

DP
type: SiteQuality
SIO_000300: 2.865963e6

GenotypeQuality
all individuals: 13
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.727712508638562e-4
allele num: 11576
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.496402877697842e-5
allele num: 66720
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.56e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.13e-1

QD
type: SiteQuality
SIO_000300: 1.273e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -6.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.247e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.864888e6

VQSLOD
type: SiteQuality
SIO_000300: 4.49e0

GenotypeQuality
all individuals: 3830
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66704
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.995e0

MQ
type: SiteQuality
SIO_000300: 5.944e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -7.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.92e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.53e-1

QD
type: SiteQuality
SIO_000300: 1.462e1

VQSLOD
type: SiteQuality
SIO_000300: 8.75e-1

DP
type: SiteQuality
SIO_000300: 2.863384e6

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.171e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.611e0

VQSLOD
type: SiteQuality
SIO_000300: 1.89e0

MQRankSum
type: SiteQuality
SIO_000300: -6.850000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.002e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 7.76e-1

DP
type: SiteQuality
SIO_000300: 2.861729e6

QD
type: SiteQuality
SIO_000300: 9.06e0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10316
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499655079331754e-5
allele num: 66682
num of homozygotes: 0

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: 8654
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.859e0

MQRankSum
type: SiteQuality
SIO_000300: 4.32e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.19e-1

QD
type: SiteQuality
SIO_000300: 1.372e1

MQ
type: SiteQuality
SIO_000300: 5.983e1

DP
type: SiteQuality
SIO_000300: 2.859915e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.19e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.709e0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10284
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499790029395885e-5
allele num: 66676
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.666e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.41e0

MQRankSum
type: SiteQuality
SIO_000300: 1.6e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.77e-1

FS
type: SiteQuality
SIO_000300: 7.27e-1

MQ
type: SiteQuality
SIO_000300: 5.875e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 2.858235e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.38e0

QD
type: SiteQuality
SIO_000300: 1.027e1

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66676
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.122e1

VQSLOD
type: SiteQuality
SIO_000300: 3.37e-1

FS
type: SiteQuality
SIO_000300: 1.455e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.25e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.743e0

MQRankSum
type: SiteQuality
SIO_000300: -3.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e0

MQ
type: SiteQuality
SIO_000300: 5.915e1

DP
type: SiteQuality
SIO_000300: 2.857807e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10244
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.729206294310911e-4
allele num: 11566
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.25e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.8e-2

QD
type: SiteQuality
SIO_000300: 1.124e1

DP
type: SiteQuality
SIO_000300: 2.855971e6

MQRankSum
type: SiteQuality
SIO_000300: 1.19e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.15e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.18e0

MQ
type: SiteQuality
SIO_000300: 5.952e1

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.729206294310911e-4
allele num: 11566
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10244
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.19e0

FS
type: SiteQuality
SIO_000300: 2.25e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.15e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.4e-2

DP
type: SiteQuality
SIO_000300: 2.855971e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.8e-2

MQ
type: SiteQuality
SIO_000300: 5.952e1

QD
type: SiteQuality
SIO_000300: 1.124e1

VQSLOD
type: SiteQuality
SIO_000300: 1.18e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10222
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.001860576778802e-5
allele num: 66646
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.650519031141868e-5
allele num: 11560
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.3e-1

FS
type: SiteQuality
SIO_000300: 3.333e0

DP
type: SiteQuality
SIO_000300: 2.85415e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.948e1

MQRankSum
type: SiteQuality
SIO_000300: -3.19e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.542e0

VQSLOD
type: SiteQuality
SIO_000300: 1.72e0

QD
type: SiteQuality
SIO_000300: 1.187e1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.001290554938624e-5
allele num: 66638
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10216
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.285e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.32e-1

DP
type: SiteQuality
SIO_000300: 2.85279e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.949e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.073e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.89e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.158e0

MQRankSum
type: SiteQuality
SIO_000300: 2.78e0

FS
type: SiteQuality
SIO_000300: 6.993e0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66636
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10212
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.06060606060606e-5
allele num: 16500
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.7e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.58e-1

FS
type: SiteQuality
SIO_000300: 2.933e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.29e0

QD
type: SiteQuality
SIO_000300: 1.587e1

MQRankSum
type: SiteQuality
SIO_000300: 9.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 2.85257e6

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.792401096748923e-5
allele num: 10212
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.00147072065312e-5
allele num: 66634
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.978e1

FS
type: SiteQuality
SIO_000300: 2.858e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.156e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.070000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.09e0

MQRankSum
type: SiteQuality
SIO_000300: 6.7e-1

DP
type: SiteQuality
SIO_000300: 2.85236e6

QD
type: SiteQuality
SIO_000300: 1.44e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.7e-1

Latino
type: Population
allele count: 13
allele frequency: 1.124567474048443e-3
allele num: 11560
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10158
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66602
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 4.82e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.954e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.323e1

DP
type: SiteQuality
SIO_000300: 2.848662e6

VQSLOD
type: SiteQuality
SIO_000300: 1.7e0

FS
type: SiteQuality
SIO_000300: 8.159999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.071e0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501501501501501e-5
allele num: 66600
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: 8652
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.978e1

DP
type: SiteQuality
SIO_000300: 2.848045e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.962e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.64e0

VQSLOD
type: SiteQuality
SIO_000300: 3.78e-1

FS
type: SiteQuality
SIO_000300: 1.348e0

MQRankSum
type: SiteQuality
SIO_000300: -5.0e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.517e0

QD
type: SiteQuality
SIO_000300: 9.26e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10102
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501681883709755e-5
allele num: 66592
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.13e0

MQRankSum
type: SiteQuality
SIO_000300: -1.552e0

VQSLOD
type: SiteQuality
SIO_000300: -2.729e-1

FS
type: SiteQuality
SIO_000300: 5.391e0

QD
type: SiteQuality
SIO_000300: 1.605e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 2.845333e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.6e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.629999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10098
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
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: 8652
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50177209106746e-5
allele num: 66588
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.83e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.1e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.83e-1

DP
type: SiteQuality
SIO_000300: 2.844601e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 9.97e-1

FS
type: SiteQuality
SIO_000300: 1.408e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

QD
type: SiteQuality
SIO_000300: 1.215e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.350000000000001e-1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 51
allele frequency: 7.659037664444044e-4
allele num: 66588
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

Latino
type: Population
allele count: 12
allele frequency: 1.038781163434903e-3
allele num: 11552
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.57e0

VQSLOD
type: SiteQuality
SIO_000300: 5.98e0

MQ
type: SiteQuality
SIO_000300: 5.978e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.76e-1

DP
type: SiteQuality
SIO_000300: 2.84336e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.6e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.32e-1

QD
type: SiteQuality
SIO_000300: 1.435e1

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.007268795242243e-5
allele num: 66586
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.159e0

DP
type: SiteQuality
SIO_000300: 2.84122e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

VQSLOD
type: SiteQuality
SIO_000300: 5.32e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.0e-1

QD
type: SiteQuality
SIO_000300: 1.37e1

MQRankSum
type: SiteQuality
SIO_000300: 2.11e-1

MQ
type: SiteQuality
SIO_000300: 5.976e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.900000000000001e-2

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9992
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66576
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.156336725254394e-4
allele num: 8648
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e0

MQRankSum
type: SiteQuality
SIO_000300: 8.2e-1

MQ
type: SiteQuality
SIO_000300: 5.958e1

VQSLOD
type: SiteQuality
SIO_000300: 9.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.374e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.0e-1

DP
type: SiteQuality
SIO_000300: 2.837515e6

FS
type: SiteQuality
SIO_000300: 2.104e0

QD
type: SiteQuality
SIO_000300: 1.233e1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66574
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.06134076857801e-5
allele num: 16498
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.421e1

MQ
type: SiteQuality
SIO_000300: 5.98e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.342e0

DP
type: SiteQuality
SIO_000300: 2.835795e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.46e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -8.35e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.5e0

FS
type: SiteQuality
SIO_000300: 1.241e0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9868
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.539e0

MQ
type: SiteQuality
SIO_000300: 5.909e1

DP
type: SiteQuality
SIO_000300: 2.814314e6

MQRankSum
type: SiteQuality
SIO_000300: -4.74e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

FS
type: SiteQuality
SIO_000300: 7.176e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.6e-2

QD
type: SiteQuality
SIO_000300: 1.474e1

VQSLOD
type: SiteQuality
SIO_000300: -5.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.7e-2

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.966679888932963e-5
allele num: 50420
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5836
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9138
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14564
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7042
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.98e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.4e-3

FS
type: SiteQuality
SIO_000300: 1.779e0

DP
type: SiteQuality
SIO_000300: 1.441382e6

QD
type: SiteQuality
SIO_000300: 1.32e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.247e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.63e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.96e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.88e-1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5858
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 1.096491228070175e-4
allele num: 9120
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50518
num of homozygotes: 0

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

African
type: Population
allele count: 12
allele frequency: 1.439194051331255e-3
allele num: 8338
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.395e0

QD
type: SiteQuality
SIO_000300: 1.43e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

FS
type: SiteQuality
SIO_000300: 3.12e0

VQSLOD
type: SiteQuality
SIO_000300: 1.91e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.55e-1

DP
type: SiteQuality
SIO_000300: 1.443632e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.21e-1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14632
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7092
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5852
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 746
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50664
num of homozygotes: 0

African
type: Population
allele count: 22
allele frequency: 2.62906309751434e-3
allele num: 8368
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.465371e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.34e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.61e0

VQSLOD
type: SiteQuality
SIO_000300: 3.11e0

FS
type: SiteQuality
SIO_000300: 2.182e0

QD
type: SiteQuality
SIO_000300: 1.488e1

South Asian
type: Population
allele count: 8
allele frequency: 5.336179295624333e-4
allele num: 14992
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7484
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 3.043213633597079e-4
allele num: 9858
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8716
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 1.09513032050814e-4
allele num: 54788
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 770
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.976e1

VQSLOD
type: SiteQuality
SIO_000300: 5.9e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.99e0

QD
type: SiteQuality
SIO_000300: 1.221e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.25e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.34e-1

DP
type: SiteQuality
SIO_000300: 1.630825e6

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15558
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9116
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10692
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.635002125502763e-5
allele num: 61162
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.56e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.683e0

MQRankSum
type: SiteQuality
SIO_000300: 5.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.0e-2

DP
type: SiteQuality
SIO_000300: 1.772068e6

VQSLOD
type: SiteQuality
SIO_000300: -1.168e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.03e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6338
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9122
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8162
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10728
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61374
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.2e-1

QD
type: SiteQuality
SIO_000300: 1.122e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.773e0

DP
type: SiteQuality
SIO_000300: 1.776127e6

MQ
type: SiteQuality
SIO_000300: 5.995e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

FS
type: SiteQuality
SIO_000300: 4.471e0

MQRankSum
type: SiteQuality
SIO_000300: -5.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.84e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.84e-1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9148
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10786
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.221896383186706e-4
allele num: 8184
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6364
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.957e1

QD
type: SiteQuality
SIO_000300: 8.640000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.74e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.587e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.781612e6

VQSLOD
type: SiteQuality
SIO_000300: 6.04e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.619747967216301e-5
allele num: 61738
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9148
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8184
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6364
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.587e0

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

MQ
type: SiteQuality
SIO_000300: 5.957e1

VQSLOD
type: SiteQuality
SIO_000300: 6.04e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

DP
type: SiteQuality
SIO_000300: 1.781612e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.74e-1

QD
type: SiteQuality
SIO_000300: 8.640000000000001e0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10844
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9150
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15714
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8218
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.606322485302149e-5
allele num: 62254
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.507e0

MQRankSum
type: SiteQuality
SIO_000300: -1.342e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.3e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.09e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.15e-1

QD
type: SiteQuality
SIO_000300: 1.472e1

DP
type: SiteQuality
SIO_000300: 1.788086e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.37e0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8222
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15750
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.806459882081518e-5
allele num: 62416
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10872
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6400
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

MQ
type: SiteQuality
SIO_000300: 5.979e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.01e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.528e0

QD
type: SiteQuality
SIO_000300: 2.634e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.2e-2

DP
type: SiteQuality
SIO_000300: 1.790422e6

MQRankSum
type: SiteQuality
SIO_000300: 4.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.792e0

FS
type: SiteQuality
SIO_000300: 1.499e0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8224
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6396
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.203177552131715e-5
allele num: 62438
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15750
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9146
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 9.19793966151582e-5
allele num: 10872
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.34e-1

MQ
type: SiteQuality
SIO_000300: 5.964e1

DP
type: SiteQuality
SIO_000300: 1.791389e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.299999999999999e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.741e0

VQSLOD
type: SiteQuality
SIO_000300: 1.56e0

FS
type: SiteQuality
SIO_000300: 2.509e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

QD
type: SiteQuality
SIO_000300: 1.179e1