1-94526239-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94526239
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94526239
    reference: chr 1
allele count: 3
allele frequency: 2.5071872701745e-5
allele num: 119656
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.2014A>G
  hgvsp: ENSP00000359245.3:p.Lys672Glu
  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: ENST00000472033
  gene symbol: ABCA4
  hgvsc: ENST00000472033.1:n.134A>G
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000437682
  ensembl transcript: ENST00000535735
  gene symbol: ABCA4
  hgvsc: ENST00000535735.1:c.2014A>G
  hgvsp: ENSP00000437682.1:p.Lys672Glu
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
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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: 4934
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 224
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7844
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 195
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5555
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Lys672Glu
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

1-94526246-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94526246
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94526246
    reference: chr 1
allele count: 3
allele frequency: 2.522619488076418e-5
allele num: 118924
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000437682
  ensembl transcript: ENST00000535735
  gene symbol: ABCA4
  hgvsc: ENST00000535735.1:c.2007G>A
  hgvsp: ENSP00000437682.1:p.Met669Ile
  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.2007G>A
  hgvsp: ENSP00000359245.3:p.Met669Ile
  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: ENST00000472033
  gene symbol: ABCA4
  hgvsc: ENST00000472033.1:n.127G>A
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 4.75e1
  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: 1
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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  bin: 8.25e1
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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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  bin: 3.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 526
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
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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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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 608
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genotype quality: GenotypeQuality
  all individuals: 2027
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 40061
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Met669Ile
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-94526258-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94526258
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94526258
    reference: chr 1
allele count: 1
allele frequency: 8.535919147773831e-6
allele num: 117152
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000472033
  gene symbol: ABCA4
  hgvsc: ENST00000472033.1:n.115C>A
  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.1995C>A
  hgvsp: ENSP00000359245.3:p.Tyr665Ter
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000437682
  ensembl transcript: ENST00000535735
  gene symbol: ABCA4
  hgvsc: ENST00000535735.1:c.1995C>A
  hgvsp: ENSP00000437682.1:p.Tyr665Ter
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22906
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  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: 6.25e1
  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
  all individuals: 2082
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 299
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genotype quality: GenotypeQuality
  all individuals: 38436
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Tyr665Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: African
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

1-94526262-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94526262
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94526262
    reference: chr 1
allele count: 2
allele frequency: 1.718154015325934e-5
allele num: 116404
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000472033
  gene symbol: ABCA4
  hgvsc: ENST00000472033.1:n.111T>C
  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.1991T>C
  hgvsp: ENSP00000359245.3:p.Ile664Thr
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000437682
  ensembl transcript: ENST00000535735
  gene symbol: ABCA4
  hgvsc: ENST00000535735.1:c.1991T>C
  hgvsp: ENSP00000437682.1:p.Ile664Thr
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  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: 2
genotype depth: GenotypeDepth
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  bin: 2.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 640
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 1162
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genotype quality: GenotypeQuality
  all individuals: 7833
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 12
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ile664Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
reference allele: A
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

1-94526267-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94526267
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94526267
    reference: chr 1
allele count: 14
allele frequency: 1.21591106479069e-4
allele num: 115140
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000437682
  ensembl transcript: ENST00000535735
  gene symbol: ABCA4
  hgvsc: ENST00000535735.1:c.1986A>G
  hgvsp: ENST00000535735.1:c.1986A>G(p.%3D)
  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.1986A>G
  hgvsp: ENST00000370225.3:c.1986A>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
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000472033
  gene symbol: ABCA4
  hgvsc: ENST00000472033.1:n.106A>G
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4544
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2721
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18470
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22303
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3085
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5163
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1030
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4914
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37203
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1094
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala662Ala
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: African
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: DP

1-94526267-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94526267
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94526267
    reference: chr 1
allele count: 1
allele frequency: 8.685079034219211e-6
allele num: 115140
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000359245
  ensembl transcript: ENST00000370225
  gene symbol: ABCA4
  hgvsc: ENST00000370225.3:c.1986A>C
  hgvsp: ENST00000370225.3:c.1986A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000437682
  ensembl transcript: ENST00000535735
  gene symbol: ABCA4
  hgvsc: ENST00000535735.1:c.1986A>C
  hgvsp: ENST00000535735.1:c.1986A>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: ENST00000472033
  gene symbol: ABCA4
  hgvsc: ENST00000472033.1:n.106A>C
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3085
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2721
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22303
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18470
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4544
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1030
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4914
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5163
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1094
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37203
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala662Ala
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD

1-94526270-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94526270
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94526270
    reference: chr 1
allele count: 8
allele frequency: 7.032472441498619e-5
allele num: 113758
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000437682
  ensembl transcript: ENST00000535735
  gene symbol: ABCA4
  hgvsc: ENST00000535735.1:c.1983G>C
  hgvsp: ENST00000535735.1:c.1983G>C(p.%3D)
  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.1983G>C
  hgvsp: ENST00000370225.3:c.1983G>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: ENST00000472033
  gene symbol: ABCA4
  hgvsc: ENST00000472033.1:n.103G>C
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17665
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3733
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3283
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21886
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4431
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7833
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 954
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6261
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36004
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1020
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4743
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu661Leu
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-94526284-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94526284
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94526284
    reference: chr 1
allele count: 54
allele frequency: 5.050316112378886e-4
allele num: 106924
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000437682
  ensembl transcript: ENST00000535735
  gene symbol: ABCA4
  hgvsc: ENST00000535735.1:c.1969A>G
  hgvsp: ENSP00000437682.1:p.Ile657Val
  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: ENST00000472033
  gene symbol: ABCA4
  hgvsc: ENST00000472033.1:n.89A>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.1969A>G
  hgvsp: ENSP00000359245.3:p.Ile657Val
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6592
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18408
  bin: 2.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 3676
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14653
  bin: 2.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 7056
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 4.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 963
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12237
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29733
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 986
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 744
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7863
  bin: 9.75e1
  variant carriers: 52
genotype quality: GenotypeQuality
  all individuals: 3670
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ile657Val
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

1-94526285-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94526285
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94526285
    reference: chr 1
allele count: 1
allele frequency: 9.406983744732089e-6
allele num: 106304
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000437682
  ensembl transcript: ENST00000535735
  gene symbol: ABCA4
  hgvsc: ENST00000535735.1:c.1968T>C
  hgvsp: ENST00000535735.1:c.1968T>C(p.%3D)
  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.1968T>C
  hgvsp: ENST00000370225.3:c.1968T>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: ENST00000472033
  gene symbol: ABCA4
  hgvsc: ENST00000472033.1:n.88T>C
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3640
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14343
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6884
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18150
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1626
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7362
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 981
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3626
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29430
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 704
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12781
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1034
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 652
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7813
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro656Pro
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD

1-94526287-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94526287
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94526287
    reference: chr 1
allele count: 1
allele frequency: 9.598402825769793e-6
allele num: 104184
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000437682
  ensembl transcript: ENST00000535735
  gene symbol: ABCA4
  hgvsc: ENST00000535735.1:c.1966C>T
  hgvsp: ENSP00000437682.1:p.Pro656Ser
  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.1966C>T
  hgvsp: ENSP00000359245.3:p.Pro656Ser
  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: ENST00000472033
  gene symbol: ABCA4
  hgvsc: ENST00000472033.1:n.86C>T
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1780
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7888
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17108
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3448
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8331
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13431
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1155
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 698
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1135
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14501
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 963
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3142
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 305
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26999
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 730
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 868
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro656Ser
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/1-94526289-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94526289
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94526289
    reference: chr 1
allele count: 67
allele frequency: 6.465059729432426e-4
allele num: 103634
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000437682
  ensembl transcript: ENST00000535735
  gene symbol: ABCA4
  hgvsc: ENST00000535735.1:c.1964T>G
  hgvsp: ENSP00000437682.1:p.Phe655Cys
  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: ENST00000472033
  gene symbol: ABCA4
  hgvsc: ENST00000472033.1:n.84T>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.1964T>G
  hgvsp: ENSP00000359245.3:p.Phe655Cys
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3315
  bin: 3.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8119
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8643
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13366
  bin: 2.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16768
  bin: 2.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 1.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15024
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 715
  bin: 3.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3078
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
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genotype quality: GenotypeQuality
  all individuals: 650
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genotype quality: GenotypeQuality
  all individuals: 95
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1147
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27512
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7869
  bin: 9.75e1
  variant carriers: 67
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 269
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genotype quality: GenotypeQuality
  all individuals: 1180
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genotype quality: GenotypeQuality
  all individuals: 627
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Phe655Cys
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

1-94526295-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94526295
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94526295
    reference: chr 1
allele count: 1
allele frequency: 1.013191756671868e-5
allele num: 98698
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000472033
  gene symbol: ABCA4
  hgvsc: ENST00000472033.1:n.78G>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.1958G>A
  hgvsp: ENSP00000359245.3:p.Arg653His
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000437682
  ensembl transcript: ENST00000535735
  gene symbol: ABCA4
  hgvsc: ENST00000535735.1:c.1958G>A
  hgvsp: ENSP00000437682.1:p.Arg653His
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14235
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10796
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2968
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2039
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10398
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11447
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2636
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 1510
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23349
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1376
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18893
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 578
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 100
  bin: 1.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 262
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genotype quality: GenotypeQuality
  all individuals: 344
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 851
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7805
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg653His
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff

1-94526296-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94526296
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94526296
    reference: chr 1
allele count: 1
allele frequency: 1.035046680605295e-5
allele num: 96614
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000437682
  ensembl transcript: ENST00000535735
  gene symbol: ABCA4
  hgvsc: ENST00000535735.1:c.1957C>T
  hgvsp: ENSP00000437682.1:p.Arg653Cys
  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: ENST00000472033
  gene symbol: ABCA4
  hgvsc: ENST00000472033.1:n.77C>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.1957C>T
  hgvsp: ENSP00000359245.3:p.Arg653Cys
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13087
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11787
  bin: 7.5e0
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genotype depth: GenotypeDepth
  all individuals: 663
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2132
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2738
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10573
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11507
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20991
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20761
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1612
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7804
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2382
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 908
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1477
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 701
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg653Cys
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: FS

1-94526308-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94526308
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94526308
    reference: chr 1
allele count: 1
allele frequency: 1.144531428833036e-5
allele num: 87372
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.1945A>T
  hgvsp: ENSP00000359245.3:p.Ile649Phe
  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: ENST00000472033
  gene symbol: ABCA4
  hgvsc: ENST00000472033.1:n.65A>T
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000437682
  ensembl transcript: ENST00000535735
  gene symbol: ABCA4
  hgvsc: ENST00000535735.1:c.1945A>T
  hgvsp: ENSP00000437682.1:p.Ile649Phe
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15732
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2207
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15836
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
  all individuals: 526
  bin: 9.25e1
  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
  all individuals: 8243
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1863
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 888
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2111
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 359
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 5.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1704
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ile649Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/1-94526309-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94526309
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94526309
    reference: chr 1
allele count: 4
allele frequency: 4.63456458265746e-5
allele num: 86308
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000472033
  gene symbol: ABCA4
  hgvsc: ENST00000472033.1:n.64G>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.1944G>T
  hgvsp: ENSP00000359245.3:p.Met648Ile
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000437682
  ensembl transcript: ENST00000535735
  gene symbol: ABCA4
  hgvsc: ENST00000535735.1:c.1944G>T
  hgvsp: ENSP00000437682.1:p.Met648Ile
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7025
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7935
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16138
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1854
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16055
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1171
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1838
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genotype quality: GenotypeQuality
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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: 317
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 326
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genotype quality: GenotypeQuality
  all individuals: 884
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1653
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 28510
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Met648Ile
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS

1-94526316-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94526316
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94526316
    reference: chr 1
allele count: 1
allele frequency: 1.238543472875898e-5
allele num: 80740
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000437682
  ensembl transcript: ENST00000535735
  gene symbol: ABCA4
  hgvsc: ENST00000535735.1:c.1938-1G>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: ENST00000472033
  gene symbol: ABCA4
  hgvsc: ENST00000472033.1:n.58-1G>A
  variant of: http://identifiers.org/hgnc/34
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.1938-1G>A
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1843
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
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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: 1249
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  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
  all individuals: 573
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genotype depth: GenotypeDepth
  all individuals: 4943
  bin: 2.25e1
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genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
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genotype depth: GenotypeDepth
  all individuals: 663
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2004
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  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: 9318
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 250
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 8.75e1
  variant carriers: 0
hgvs: c.1938-1G>A
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

1-94526327-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94526327
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94526327
    reference: chr 1
allele count: 4
allele frequency: 5.592215635834918e-5
allele num: 71528
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198691
  ensembl transcript: ENST00000472033
  gene symbol: ABCA4
  hgvsc: ENST00000472033.1:n.58-12C>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.1938-12C>T
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000437682
  ensembl transcript: ENST00000535735
  gene symbol: ABCA4
  hgvsc: ENST00000535735.1:c.1938-12C>T
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19801
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4365
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
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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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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33503
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
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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: 7.5e0
  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: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 249
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD

1-94526336-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94526336
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94526336
    reference: chr 1
allele count: 1
allele frequency: 1.557486839236208e-5
allele num: 64206
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000437682
  ensembl transcript: ENST00000535735
  gene symbol: ABCA4
  hgvsc: ENST00000535735.1:c.1938-21G>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.1938-21G>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: ENST00000472033
  gene symbol: ABCA4
  hgvsc: ENST00000472033.1:n.58-21G>A
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1640
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 564
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 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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  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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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP

1-94526346-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94526346
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94526346
    reference: chr 1
allele count: 2
allele frequency: 3.536317985713275e-5
allele num: 56556
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.1938-31C>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: ENST00000472033
  gene symbol: ABCA4
  hgvsc: ENST00000472033.1:n.58-31C>G
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000437682
  ensembl transcript: ENST00000535735
  gene symbol: ABCA4
  hgvsc: ENST00000535735.1:c.1938-31C>G
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15896
  bin: 1.25e1
  variant carriers: 2
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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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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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 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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  bin: 2.25e1
  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
  all individuals: 573
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

1-94526354-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94526354
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94526354
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 50668
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.1938-39A>T
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000437682
  ensembl transcript: ENST00000535735
  gene symbol: ABCA4
  hgvsc: ENST00000535735.1:c.1938-39A>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: ENST00000472033
  gene symbol: ABCA4
  hgvsc: ENST00000472033.1:n.58-39A>T
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 6.75e1
  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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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2026
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP

1-94526355-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94526355
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94526355
    reference: chr 1
allele count: 1
allele frequency: 2.074172405210321e-5
allele num: 48212
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.1938-40C>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: ENST00000472033
  gene symbol: ABCA4
  hgvsc: ENST00000472033.1:n.58-40C>A
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000437682
  ensembl transcript: ENST00000535735
  gene symbol: ABCA4
  hgvsc: ENST00000535735.1:c.1938-40C>A
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 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: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
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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: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

1-94526360-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94526360
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94526360
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 44236
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.1938-45A>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: ENST00000472033
  gene symbol: ABCA4
  hgvsc: ENST00000472033.1:n.58-45A>G
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000437682
  ensembl transcript: ENST00000535735
  gene symbol: ABCA4
  hgvsc: ENST00000535735.1:c.1938-45A>G
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1701
  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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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/1-94528085-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94528085
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94528085
    reference: chr 1
allele count: 1
allele frequency: 8.362882183715796e-6
allele num: 119576
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000437682
  ensembl transcript: ENST00000535735
  gene symbol: ABCA4
  hgvsc: ENST00000535735.1:c.1937+48G>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.1937+48G>T
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 725
  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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11490
  num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum

1-94528097-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94528097
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94528097
    reference: chr 1
allele count: 2
allele frequency: 1.668613382279326e-5
allele num: 119860
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.1937+36G>A
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000437682
  ensembl transcript: ENST00000535735
  gene symbol: ABCA4
  hgvsc: ENST00000535735.1:c.1937+36G>A
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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population: East Asian
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  allele num: 8572
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
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site quality: MQRankSum
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site quality: InbreedingCoeff
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1-94528098-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94528098
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94528098
    reference: chr 1
allele count: 3
allele frequency: 2.501709501492687e-5
allele num: 119918
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.1937+35C>T
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000437682
  ensembl transcript: ENST00000535735
  gene symbol: ABCA4
  hgvsc: ENST00000535735.1:c.1937+35C>T
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 1
  allele frequency: 9.786651008025054e-5
  allele num: 10218
  num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

1-94528099-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94528099
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94528099
    reference: chr 1
allele count: 1
allele frequency: 8.334861391255063e-6
allele num: 119978
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000437682
  ensembl transcript: ENST00000535735
  gene symbol: ABCA4
  hgvsc: ENST00000535735.1:c.1937+34A>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.1937+34A>C
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1849
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  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: 739
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1263
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 740
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 884
  num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: T
site quality: QD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

1-94528104-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94528104
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94528104
    reference: chr 1
allele count: 2
allele frequency: 1.6654730776277e-5
allele num: 120086
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000437682
  ensembl transcript: ENST00000535735
  gene symbol: ABCA4
  hgvsc: ENST00000535735.1:c.1937+29A>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.1937+29A>T
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1853
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  variant carriers: 2
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 884
  num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-94528115-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94528115
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94528115
    reference: chr 1
allele count: 3
allele frequency: 2.490329221523085e-5
allele num: 120466
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.1937+18G>A
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000437682
  ensembl transcript: ENST00000535735
  gene symbol: ABCA4
  hgvsc: ENST00000535735.1:c.1937+18G>A
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
  all individuals: 2160
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 892
  num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff

1-94528116-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94528116
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94528116
    reference: chr 1
allele count: 8
allele frequency: 6.637021304838388e-5
allele num: 120536
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000437682
  ensembl transcript: ENST00000535735
  gene symbol: ABCA4
  hgvsc: ENST00000535735.1:c.1937+17C>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.1937+17C>T
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
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  variant carriers: 3
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66362
  num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ

1-94528117-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94528117
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94528117
    reference: chr 1
allele count: 41
allele frequency: 3.399273716152354e-4
allele num: 120614
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000437682
  ensembl transcript: ENST00000535735
  gene symbol: ABCA4
  hgvsc: ENST00000535735.1:c.1937+16G>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.1937+16G>A
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
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  bin: 8.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8590
  num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: African
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD

1-94528118-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94528118
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94528118
    reference: chr 1
allele count: 2
allele frequency: 1.657110661849998e-5
allele num: 120692
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000437682
  ensembl transcript: ENST00000535735
  gene symbol: ABCA4
  hgvsc: ENST00000535735.1:c.1937+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.1937+15C>T
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11528
  num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
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http://identifiers.org/exac.variant/1-94528130-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94528130
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94528130
    reference: chr 1
allele count: 1
allele frequency: 8.268699664290793e-6
allele num: 120938
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.1937+3G>T
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000437682
  ensembl transcript: ENST00000535735
  gene symbol: ABCA4
  hgvsc: ENST00000535735.1:c.1937+3G>T
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: c.1937+3G>T
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 900
  num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum

1-94528132-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94528132
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94528132
    reference: chr 1
allele count: 1
allele frequency: 8.266375690242371e-6
allele num: 120972
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: splice_donor_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000437682
  ensembl transcript: ENST00000535735
  gene symbol: ABCA4
  hgvsc: ENST00000535735.1:c.1937+1G>A
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: splice_donor_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000359245
  ensembl transcript: ENST00000370225
  gene symbol: ABCA4
  hgvsc: ENST00000370225.3:c.1937+1G>A
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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hgvs: c.1937+1G>A
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10356
  num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
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site quality: MQ
site quality: ReadPosRankSum

1-94528133-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94528133
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94528133
    reference: chr 1
allele count: 3
allele frequency: 2.479625741821368e-5
allele num: 120986
alternate allele: A
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.1937C>T
  hgvsp: ENSP00000359245.3:p.Ser646Phe
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000437682
  ensembl transcript: ENST00000535735
  gene symbol: ABCA4
  hgvsc: ENST00000535735.1:c.1937C>T
  hgvsp: ENSP00000437682.1:p.Ser646Phe
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 2223
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 97
  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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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: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser646Phe
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum

http://identifiers.org/exac.variant/1-94528137-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94528137
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94528137
    reference: chr 1
allele count: 3
allele frequency: 2.478314745972738e-5
allele num: 121050
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000437682
  ensembl transcript: ENST00000535735
  gene symbol: ABCA4
  hgvsc: ENST00000535735.1:c.1933G>T
  hgvsp: ENSP00000437682.1:p.Asp645Tyr
  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.1933G>T
  hgvsp: ENSP00000359245.3:p.Asp645Tyr
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24788
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1861
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genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6569
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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 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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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 89
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genotype quality: GenotypeQuality
  all individuals: 1264
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2224
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 745
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 613
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 7775
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genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asp645Tyr
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum

1-94528137-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94528137
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94528137
    reference: chr 1
allele count: 1
allele frequency: 8.261049153242462e-6
allele num: 121050
alternate allele: T
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.1933G>A
  hgvsp: ENSP00000359245.3:p.Asp645Asn
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000437682
  ensembl transcript: ENST00000535735
  gene symbol: ABCA4
  hgvsc: ENST00000535735.1:c.1933G>A
  hgvsp: ENSP00000437682.1:p.Asp645Asn
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24788
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6569
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1861
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.25e1
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genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 3.25e1
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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: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 2224
  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: 41625
  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
  all individuals: 3474
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  variant carriers: 1
hgvs: p.Asp645Asn
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD

1-94528138-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94528138
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94528138
    reference: chr 1
allele count: 87
allele frequency: 7.186281636159386e-4
allele num: 121064
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000437682
  ensembl transcript: ENST00000535735
  gene symbol: ABCA4
  hgvsc: ENST00000535735.1:c.1932C>T
  hgvsp: ENST00000535735.1:c.1932C>T(p.%3D)
  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.1932C>T
  hgvsp: ENST00000370225.3:c.1932C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24792
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 446
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  variant carriers: 10
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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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 140
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genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
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  variant carriers: 5
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 610
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  variant carriers: 0
hgvs: p.Asp644Asp
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 24
  allele frequency: 3.674219228413962e-3
  allele num: 6532
  num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/1-94528142-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94528142
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94528142
    reference: chr 1
allele count: 163
allele frequency: 1.346017275264662e-3
allele num: 121098
alternate allele: C
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000437682
  ensembl transcript: ENST00000535735
  gene symbol: ABCA4
  hgvsc: ENST00000535735.1:c.1928T>G
  hgvsp: ENSP00000437682.1:p.Val643Gly
  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.1928T>G
  hgvsp: ENSP00000359245.3:p.Val643Gly
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 4.75e1
  variant carriers: 15
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
  all individuals: 1118
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  variant carriers: 14
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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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: 7
genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 9
genotype depth: GenotypeDepth
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  variant carriers: 13
genotype depth: GenotypeDepth
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  variant carriers: 7
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 732
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2219
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7760
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3599
  bin: 9.75e1
  variant carriers: 161
genotype quality: GenotypeQuality
  all individuals: 1238
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41702
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Val643Gly
num of homozygotes: 1
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: African
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQ

1-94528143-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94528143
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94528143
    reference: chr 1
allele count: 196
allele frequency: 1.618390197179377e-3
allele num: 121108
alternate allele: T
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.1927G>A
  hgvsp: ENSP00000359245.3:p.Val643Met
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000437682
  ensembl transcript: ENST00000535735
  gene symbol: ABCA4
  hgvsc: ENST00000535735.1:c.1927G>A
  hgvsp: ENSP00000437682.1:p.Val643Met
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 5.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 6563
  bin: 3.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 24895
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1858
  bin: 3.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 4.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 4.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1236
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3604
  bin: 9.75e1
  variant carriers: 194
genotype quality: GenotypeQuality
  all individuals: 2202
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41693
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Val643Met
num of homozygotes: 1
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum

1-94528151-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94528151
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94528151
    reference: chr 1
allele count: 1
allele frequency: 8.255184255712587e-6
allele num: 121136
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.1919C>A
  hgvsp: ENSP00000359245.3:p.Pro640His
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000437682
  ensembl transcript: ENST00000535735
  gene symbol: ABCA4
  hgvsc: ENST00000535735.1:c.1919C>A
  hgvsp: ENSP00000437682.1:p.Pro640His
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1859
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25062
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23859
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6590
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41863
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2228
  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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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3435
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1247
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro640His
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 6.065752759917505e-5
  allele num: 16486
  num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

1-94528152-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94528152
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94528152
    reference: chr 1
allele count: 1
allele frequency: 8.255047961828658e-6
allele num: 121138
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.1918C>A
  hgvsp: ENSP00000359245.3:p.Pro640Thr
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000437682
  ensembl transcript: ENST00000535735
  gene symbol: ABCA4
  hgvsc: ENST00000535735.1:c.1918C>A
  hgvsp: ENSP00000437682.1:p.Pro640Thr
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  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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  bin: 2.25e1
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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: 736
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41846
  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: 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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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 730
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro640Thr
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10382
  num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

1-94528158-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94528158
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94528158
    reference: chr 1
allele count: 1
allele frequency: 8.255456856982466e-6
allele num: 121132
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.1912C>T
  hgvsp: ENSP00000359245.3:p.Pro638Ser
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000437682
  ensembl transcript: ENST00000535735
  gene symbol: ABCA4
  hgvsc: ENST00000535735.1:c.1912C>T
  hgvsp: ENSP00000437682.1:p.Pro638Ser
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23683
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 6619
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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: 7.5e0
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genotype depth: GenotypeDepth
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  variant carriers: 0
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2228
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro638Ser
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10382
  num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-94528165-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94528165
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94528165
    reference: chr 1
allele count: 1
allele frequency: 8.256138438929344e-6
allele num: 121122
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000437682
  ensembl transcript: ENST00000535735
  gene symbol: ABCA4
  hgvsc: ENST00000535735.1:c.1905G>A
  hgvsp: ENST00000535735.1:c.1905G>A(p.%3D)
  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.1905G>A
  hgvsp: ENST00000370225.3:c.1905G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25194
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23644
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1858
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6603
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2233
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7800
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2189
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41761
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1235
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3435
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gln635Gln
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8616
  num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

1-94528184-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94528184
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94528184
    reference: chr 1
allele count: 1
allele frequency: 8.260230295220631e-6
allele num: 121062
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000437682
  ensembl transcript: ENST00000535735
  gene symbol: ABCA4
  hgvsc: ENST00000535735.1:c.1886C>T
  hgvsp: ENSP00000437682.1:p.Pro629Leu
  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.1886C>T
  hgvsp: ENSP00000359245.3:p.Pro629Leu
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23345
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1851
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25296
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6616
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2175
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41539
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1236
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7754
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2225
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3432
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Pro629Leu
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11546
  num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum

1-94528188-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94528188
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94528188
    reference: chr 1
allele count: 2
allele frequency: 1.652400938563733e-5
allele num: 121036
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000437682
  ensembl transcript: ENST00000535735
  gene symbol: ABCA4
  hgvsc: ENST00000535735.1:c.1882G>A
  hgvsp: ENSP00000437682.1:p.Ala628Thr
  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.1882G>A
  hgvsp: ENSP00000359245.3:p.Ala628Thr
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25331
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23242
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6610
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1852
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41332
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7744
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  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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  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 1235
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 201
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 727
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2180
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2218
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala628Thr
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10374
  num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP

1-94528192-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94528192
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94528192
    reference: chr 1
allele count: 131
allele frequency: 1.082394156724064e-3
allele num: 121028
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000437682
  ensembl transcript: ENST00000535735
  gene symbol: ABCA4
  hgvsc: ENST00000535735.1:c.1878G>A
  hgvsp: ENST00000535735.1:c.1878G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000359245
  ensembl transcript: ENST00000370225
  gene symbol: ABCA4
  hgvsc: ENST00000370225.3:c.1878G>A
  hgvsp: ENST00000370225.3:c.1878G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6605
  bin: 3.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 4.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1860
  bin: 3.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 25314
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 4.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 23166
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41386
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2166
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3528
  bin: 9.75e1
  variant carriers: 130
genotype quality: GenotypeQuality
  all individuals: 7728
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2206
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala626Ala
num of homozygotes: 1
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ

1-94528193-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94528193
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94528193
    reference: chr 1
allele count: 6
allele frequency: 4.957940141136029e-5
allele num: 121018
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000437682
  ensembl transcript: ENST00000535735
  gene symbol: ABCA4
  hgvsc: ENST00000535735.1:c.1877C>T
  hgvsp: ENSP00000437682.1:p.Ala626Val
  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.1877C>T
  hgvsp: ENSP00000359245.3:p.Ala626Val
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23171
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25352
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6596
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3417
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41321
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2173
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 719
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7739
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2213
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1226
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala626Val
num of homozygotes: 1
population: South Asian
  type: Population
  allele count: 3
  allele frequency: 1.821493624772313e-4
  allele num: 16470
  num of homozygotes: 1
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: Latino
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

1-94528208-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94528208
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94528208
    reference: chr 1
allele count: 1
allele frequency: 8.271845945141119e-6
allele num: 120892
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.1862G>A
  hgvsp: ENSP00000359245.3:p.Arg621Lys
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000437682
  ensembl transcript: ENST00000535735
  gene symbol: ABCA4
  hgvsc: ENST00000535735.1:c.1862G>A
  hgvsp: ENSP00000437682.1:p.Arg621Lys
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22882
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  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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  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: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1849
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2201
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3413
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7625
  bin: 6.75e1
  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: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1224
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 121
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg621Lys
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6560
  num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: BaseQRankSum

1-94528209-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94528209
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94528209
    reference: chr 1
allele count: 40
allele frequency: 3.308793117710315e-4
allele num: 120890
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000437682
  ensembl transcript: ENST00000535735
  gene symbol: ABCA4
  hgvsc: ENST00000535735.1:c.1861A>G
  hgvsp: ENSP00000437682.1:p.Arg621Gly
  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.1861A>G
  hgvsp: ENSP00000359245.3:p.Arg621Gly
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1841
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 4.75e1
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genotype depth: GenotypeDepth
  all individuals: 367
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25352
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 498
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 7
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 4
genotype depth: GenotypeDepth
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  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
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  variant carriers: 3
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 5.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg621Gly
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 31
  allele frequency: 2.687705912953009e-3
  allele num: 11534
  num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: African
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

1-94528211-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94528211
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94528211
    reference: chr 1
allele count: 1
allele frequency: 8.275268532463878e-6
allele num: 120842
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000437682
  ensembl transcript: ENST00000535735
  gene symbol: ABCA4
  hgvsc: ENST00000535735.1:c.1859C>T
  hgvsp: ENSP00000437682.1:p.Thr620Ile
  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.1859C>T
  hgvsp: ENSP00000359245.3:p.Thr620Ile
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
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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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  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: 246
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr620Ile
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66500
  num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-94528219-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94528219
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94528219
    reference: chr 1
allele count: 1
allele frequency: 8.281436332317477e-6
allele num: 120752
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.1851G>C
  hgvsp: ENSP00000359245.3:p.Gln617His
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000437682
  ensembl transcript: ENST00000535735
  gene symbol: ABCA4
  hgvsc: ENST00000535735.1:c.1851G>C
  hgvsp: ENSP00000437682.1:p.Gln617His
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22746
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25336
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.25e1
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gln617His
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10338
  num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

1-94528220-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94528220
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94528220
    reference: chr 1
allele count: 4
allele frequency: 3.31394674487581e-5
allele num: 120702
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.1850A>G
  hgvsp: ENSP00000359245.3:p.Gln617Arg
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000437682
  ensembl transcript: ENST00000535735
  gene symbol: ABCA4
  hgvsc: ENST00000535735.1:c.1850A>G
  hgvsp: ENSP00000437682.1:p.Gln617Arg
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Gln617Arg
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6560
  num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum

http://identifiers.org/exac.variant/1-94528227-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94528227
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94528227
    reference: chr 1
allele count: 2
allele frequency: 1.658017342861406e-5
allele num: 120626
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000437682
  ensembl transcript: ENST00000535735
  gene symbol: ABCA4
  hgvsc: ENST00000535735.1:c.1843G>T
  hgvsp: ENSP00000437682.1:p.Val615Phe
  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.1843G>T
  hgvsp: ENSP00000359245.3:p.Val615Phe
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25325
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Val615Phe
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10306
  num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ
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site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

1-94528230-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94528230
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94528230
    reference: chr 1
allele count: 1
allele frequency: 8.294074713025015e-6
allele num: 120568
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000437682
  ensembl transcript: ENST00000535735
  gene symbol: ABCA4
  hgvsc: ENST00000535735.1:c.1840A>G
  hgvsp: ENSP00000437682.1:p.Met614Val
  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.1840A>G
  hgvsp: ENSP00000359245.3:p.Met614Val
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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hgvs: p.Met614Val
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 1
  allele frequency: 8.691117677733357e-5
  allele num: 11506
  num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

1-94528230-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94528230
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94528230
    reference: chr 1
allele count: 1
allele frequency: 8.294074713025015e-6
allele num: 120568
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.1840A>C
  hgvsp: ENSP00000359245.3:p.Met614Leu
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000437682
  ensembl transcript: ENST00000535735
  gene symbol: ABCA4
  hgvsc: ENST00000535735.1:c.1840A>C
  hgvsp: ENSP00000437682.1:p.Met614Leu
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 7.5e0
  variant carriers: 0
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 depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 40849
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Met614Leu
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66386
  num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/1-94528237-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94528237
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94528237
    reference: chr 1
allele count: 5
allele frequency: 4.154204054503157e-5
allele num: 120360
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000437682
  ensembl transcript: ENST00000535735
  gene symbol: ABCA4
  hgvsc: ENST00000535735.1:c.1833G>T
  hgvsp: ENST00000535735.1:c.1833G>T(p.%3D)
  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.1833G>T
  hgvsp: ENST00000370225.3:c.1833G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 40513
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  variant carriers: 0
hgvs: p.Leu611Leu
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 894
  num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
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site quality: QD

1-94528238-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94528238
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94528238
    reference: chr 1
allele count: 1
allele frequency: 8.310893919750009e-6
allele num: 120324
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.1832T>C
  hgvsp: ENSP00000359245.3:p.Leu611Pro
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000437682
  ensembl transcript: ENST00000535735
  gene symbol: ABCA4
  hgvsc: ENST00000535735.1:c.1832T>C
  hgvsp: ENSP00000437682.1:p.Leu611Pro
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Leu611Pro
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8566
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum

1-94528240-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94528240
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94528240
    reference: chr 1
allele count: 1
allele frequency: 8.314072398942449e-6
allele num: 120278
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000437682
  ensembl transcript: ENST00000535735
  gene symbol: ABCA4
  hgvsc: ENST00000535735.1:c.1830T>A
  hgvsp: ENSP00000437682.1:p.Tyr610Ter
  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.1830T>A
  hgvsp: ENSP00000359245.3:p.Tyr610Ter
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Tyr610Ter
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11478
  num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
reference allele: A
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

1-94528248-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94528248
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94528248
    reference: chr 1
allele count: 1
allele frequency: 8.340700952508049e-6
allele num: 119894
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000437682
  ensembl transcript: ENST00000535735
  gene symbol: ABCA4
  hgvsc: ENST00000535735.1:c.1822T>A
  hgvsp: ENSP00000437682.1:p.Phe608Ile
  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.1822T>A
  hgvsp: ENSP00000359245.3:p.Phe608Ile
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1999
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1220
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39368
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 691
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1165
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2005
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Phe608Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

1-94528251-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94528251
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94528251
    reference: chr 1
allele count: 3
allele frequency: 2.50191813723855e-5
allele num: 119908
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.1819G>A
  hgvsp: ENSP00000359245.3:p.Gly607Arg
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000437682
  ensembl transcript: ENST00000535735
  gene symbol: ABCA4
  hgvsc: ENST00000535735.1:c.1819G>A
  hgvsp: ENSP00000437682.1:p.Gly607Arg
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1822
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
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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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  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: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  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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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2005
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1319
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 270
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3386
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 40258
  bin: 6.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2000
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1168
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7224
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly607Arg
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 894
  num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

1-94528252-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94528252
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94528252
    reference: chr 1
allele count: 28
allele frequency: 2.336253650396329e-4
allele num: 119850
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000359245
  ensembl transcript: ENST00000370225
  gene symbol: ABCA4
  hgvsc: ENST00000370225.3:c.1818C>T
  hgvsp: ENST00000370225.3:c.1818C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000437682
  ensembl transcript: ENST00000535735
  gene symbol: ABCA4
  hgvsc: ENST00000535735.1:c.1818C>T
  hgvsp: ENST00000535735.1:c.1818C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1820
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6377
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 436
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  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: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1987
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 343
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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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
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 4.25e1
  variant carriers: 1
hgvs: p.Gly606Gly
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 23
  allele frequency: 1.42150803461063e-3
  allele num: 16180
  num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

1-94528253-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94528253
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94528253
    reference: chr 1
allele count: 3
allele frequency: 2.503379562409252e-5
allele num: 119838
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.1817G>A
  hgvsp: ENSP00000359245.3:p.Gly606Asp
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000437682
  ensembl transcript: ENST00000535735
  gene symbol: ABCA4
  hgvsc: ENST00000535735.1:c.1817G>A
  hgvsp: ENSP00000437682.1:p.Gly606Asp
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22084
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  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: 1
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40380
  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
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 337
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly606Asp
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8544
  num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: African
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD

1-94528265-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94528265
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94528265
    reference: chr 1
allele count: 2
allele frequency: 1.679627794480743e-5
allele num: 119074
alternate allele: T
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.1805G>A
  hgvsp: ENSP00000359245.3:p.Arg602Gln
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000437682
  ensembl transcript: ENST00000535735
  gene symbol: ABCA4
  hgvsc: ENST00000535735.1:c.1805G>A
  hgvsp: ENSP00000437682.1:p.Arg602Gln
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6202
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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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: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1913
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg602Gln
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: DP

1-94528266-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94528266
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94528266
    reference: chr 1
allele count: 6
allele frequency: 5.040407264907004e-5
allele num: 119038
alternate allele: A
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.1804C>T
  hgvsp: ENSP00000359245.3:p.Arg602Trp
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000437682
  ensembl transcript: ENST00000535735
  gene symbol: ABCA4
  hgvsc: ENST00000535735.1:c.1804C>T
  hgvsp: ENSP00000437682.1:p.Arg602Trp
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24535
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21744
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6207
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39504
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1145
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2084
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3384
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1907
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1893
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6884
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg602Trp
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: G
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff

1-94528267-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94528267
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94528267
    reference: chr 1
allele count: 1
allele frequency: 8.405762991106703e-6
allele num: 118966
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000359245
  ensembl transcript: ENST00000370225
  gene symbol: ABCA4
  hgvsc: ENST00000370225.3:c.1803C>T
  hgvsp: ENST00000370225.3:c.1803C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000437682
  ensembl transcript: ENST00000535735
  gene symbol: ABCA4
  hgvsc: ENST00000535735.1:c.1803C>T
  hgvsp: ENST00000535735.1:c.1803C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6140
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1624
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21780
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24527
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2147
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39769
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6885
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1886
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1904
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1143
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3379
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Phe601Phe
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6474
  num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/1-94528272-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94528272
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94528272
    reference: chr 1
allele count: 1
allele frequency: 8.43497477942541e-6
allele num: 118554
alternate allele: A
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.1798G>T
  hgvsp: ENSP00000359245.3:p.Asp600Tyr
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000437682
  ensembl transcript: ENST00000535735
  gene symbol: ABCA4
  hgvsc: ENST00000535735.1:c.1798G>T
  hgvsp: ENSP00000437682.1:p.Asp600Tyr
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2045
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6096
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1778
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24194
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21429
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1875
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2582
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1885
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38991
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
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genotype quality: GenotypeQuality
  all individuals: 6834
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 682
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 564
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1143
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3380
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Asp600Tyr
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

1-94528278-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94528278
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94528278
    reference: chr 1
allele count: 11
allele frequency: 9.329465845673672e-5
allele num: 117906
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000437682
  ensembl transcript: ENST00000535735
  gene symbol: ABCA4
  hgvsc: ENST00000535735.1:c.1792G>A
  hgvsp: ENSP00000437682.1:p.Val598Met
  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.1792G>A
  hgvsp: ENSP00000359245.3:p.Val598Met
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6057
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1664
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1780
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23749
  bin: 2.75e1
  variant carriers: 0
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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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20964
  bin: 2.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 3131
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1821
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 695
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
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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: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1135
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 6650
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38308
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3386
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 1856
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Val598Met
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6388
  num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

1-94528279-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94528279
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94528279
    reference: chr 1
allele count: 1
allele frequency: 8.49314603115286e-6
allele num: 117742
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000437682
  ensembl transcript: ENST00000535735
  gene symbol: ABCA4
  hgvsc: ENST00000535735.1:c.1791C>T
  hgvsp: ENST00000535735.1:c.1791C>T(p.%3D)
  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.1791C>T
  hgvsp: ENST00000370225.3:c.1791C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23661
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2689
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20884
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1776
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6010
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 737
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 723
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6594
  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: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3264
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38236
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1796
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1132
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3376
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1846
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro597Pro
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9916
  num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

1-94528290-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94528290
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94528290
    reference: chr 1
allele count: 1
allele frequency: 8.603186620324168e-6
allele num: 116236
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.1780A>G
  hgvsp: ENSP00000359245.3:p.Arg594Gly
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000437682
  ensembl transcript: ENST00000535735
  gene symbol: ABCA4
  hgvsc: ENST00000535735.1:c.1780A>G
  hgvsp: ENSP00000437682.1:p.Arg594Gly
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19817
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4254
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  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: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3373
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4851
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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: 2.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6243
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1717
  bin: 7.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1087
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 672
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg594Gly
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.554919766140067e-5
  allele num: 64312
  num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

1-94528297-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94528297
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94528297
    reference: chr 1
allele count: 1
allele frequency: 8.676187336236963e-6
allele num: 115258
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000437682
  ensembl transcript: ENST00000535735
  gene symbol: ABCA4
  hgvsc: ENST00000535735.1:c.1773T>C
  hgvsp: ENST00000535735.1:c.1773T>C(p.%3D)
  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.1773T>C
  hgvsp: ENST00000370225.3:c.1773T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1803
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5408
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1732
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
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genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1627
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 790
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1357
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 3375
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5992
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 667
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1579
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser591Ser
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 15540
  num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: DP

1-94528297-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94528297
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94528297
    reference: chr 1
allele count: 3
allele frequency: 2.602856200871089e-5
allele num: 115258
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000359245
  ensembl transcript: ENST00000370225
  gene symbol: ABCA4
  hgvsc: ENST00000370225.3:c.1773T>A
  hgvsp: ENST00000370225.3:c.1773T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000437682
  ensembl transcript: ENST00000535735
  gene symbol: ABCA4
  hgvsc: ENST00000535735.1:c.1773T>A
  hgvsp: ENST00000535735.1:c.1773T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5426
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1803
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 248
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genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 17
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genotype depth: GenotypeDepth
  all individuals: 435
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21317
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 280
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 1048
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genotype quality: GenotypeQuality
  all individuals: 3375
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Ser591Ser
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 15540
  num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

1-94528311-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94528311
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94528311
    reference: chr 1
allele count: 3
allele frequency: 2.661367588091267e-5
allele num: 112724
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000437682
  ensembl transcript: ENST00000535735
  gene symbol: ABCA4
  hgvsc: ENST00000535735.1:c.1761-2A>G
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000359245
  ensembl transcript: ENST00000370225
  gene symbol: ABCA4
  hgvsc: ENST00000370225.3:c.1761-2A>G
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1698
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4921
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4080
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 1
hgvs: c.1761-2A>G
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 830
  num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD

1-94528331-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94528331
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94528331
    reference: chr 1
allele count: 2
allele frequency: 1.839317245438493e-5
allele num: 108736
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000437682
  ensembl transcript: ENST00000535735
  gene symbol: ABCA4
  hgvsc: ENST00000535735.1:c.1761-22T>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.1761-22T>C
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6087
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 798
  num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ClippingRankSum

1-94528342-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94528342
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94528342
    reference: chr 1
allele count: 1
allele frequency: 9.484966328369534e-6
allele num: 105430
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000437682
  ensembl transcript: ENST00000535735
  gene symbol: ABCA4
  hgvsc: ENST00000535735.1:c.1761-33G>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.1761-33G>C
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7458
  num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

1-94528342-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94528342
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94528342
    reference: chr 1
allele count: 4
allele frequency: 3.793986531347814e-5
allele num: 105430
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.1761-33G>A
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000437682
  ensembl transcript: ENST00000535735
  gene symbol: ABCA4
  hgvsc: ENST00000535735.1:c.1761-33G>A
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19246
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: African
  type: Population
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  allele num: 8790
  num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
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site quality: DP

1-94528343-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94528343
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94528343
    reference: chr 1
allele count: 1
allele frequency: 9.527802126605435e-6
allele num: 104956
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.1761-34C>T
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000437682
  ensembl transcript: ENST00000535735
  gene symbol: ABCA4
  hgvsc: ENST00000535735.1:c.1761-34C>T
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1094
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10757
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8072
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5436
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1831
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1048
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5701
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 740
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 871
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1663
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2122
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 861
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 656
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 766
  num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

1-94528346-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94528346
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 94528346
    reference: chr 1
allele count: 178
allele frequency: 1.717715631212244e-3
allele num: 103626
alternate allele: T
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000359245
  ensembl transcript: ENST00000370225
  gene symbol: ABCA4
  hgvsc: ENST00000370225.3:c.1761-37G>A
  variant of: http://identifiers.org/hgnc/34
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000198691
  ensembl protein: ENSP00000437682
  ensembl transcript: ENST00000535735
  gene symbol: ABCA4
  hgvsc: ENST00000535735.1:c.1761-37G>A
  variant of: http://identifiers.org/hgnc/34
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2710
  bin: 3.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 3.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 7448
  bin: 7.5e0
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 6735
  bin: 2.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 13509
  bin: 1.75e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 19052
  bin: 1.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5932
  bin: 2.75e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 1063
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8817
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2153
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8339
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 866
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3499
  bin: 9.75e1
  variant carriers: 169
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1144
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 837
  bin: 5.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 854
  bin: 8.25e1
  variant carriers: 1
num of homozygotes: 1
reference allele: C

GenotypeQuality
all individuals: 618
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10196
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.543526988550312e-5
allele num: 66028
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11372
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16072
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8534
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.41e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.42e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.28e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.9e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.899955e6

MQ
type: SiteQuality
SIO_000300: 5.979e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.6e-3

QD
type: SiteQuality
SIO_000300: 1.309e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.87e0

GenotypeQuality
all individuals: 211
bin: 8.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6540
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11290
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65662
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.883948756593821e-4
allele num: 15924
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10118
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8508
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.29e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.889688e6

FS
type: SiteQuality
SIO_000300: 5.932e0

VQSLOD
type: SiteQuality
SIO_000300: 9.320000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.366e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.091e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.78e-1

GenotypeQuality
all individuals: 7832
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64764
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.392227051904884e-5
allele num: 15644
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11126
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6462
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8370
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9912
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.725e0

MQRankSum
type: SiteQuality
SIO_000300: 7.099999999999999e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e0

VQSLOD
type: SiteQuality
SIO_000300: 7.75e-1

QD
type: SiteQuality
SIO_000300: 1.276e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.479e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.007e0

DP
type: SiteQuality
SIO_000300: 1.862354e6

GenotypeQuality
all individuals: 38190
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.105879429760537e-5
allele num: 64394
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9830
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6412
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11030
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15562
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8312
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.851367e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.01e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 5.570000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.6e0

QD
type: SiteQuality
SIO_000300: 1.214e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.77e-1

GenotypeQuality
all individuals: 7843
bin: 9.75e1
variant carriers: 14

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6370
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.56941523588311e-5
allele num: 63718
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15410
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8208
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.17096018735363e-3
allele num: 854
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9706
num of homozygotes: 0

Latino
type: Population
allele count: 12
allele frequency: 1.103549751701306e-3
allele num: 10874
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.0e0

FS
type: SiteQuality
SIO_000300: 1.99e0

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.900000000000001e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

QD
type: SiteQuality
SIO_000300: 1.192e1

MQ
type: SiteQuality
SIO_000300: 5.943e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.38e-1

DP
type: SiteQuality
SIO_000300: 1.833229e6

GenotypeQuality
all individuals: 7843
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10874
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.56941523588311e-5
allele num: 63718
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9706
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15410
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6370
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8208
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.943e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.0e0

QD
type: SiteQuality
SIO_000300: 1.192e1

MQRankSum
type: SiteQuality
SIO_000300: 1.61e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.38e-1

FS
type: SiteQuality
SIO_000300: 1.99e0

DP
type: SiteQuality
SIO_000300: 1.833229e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.900000000000001e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

GenotypeQuality
all individuals: 485
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15218
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10730
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6290
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8134
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.271455816910362e-4
allele num: 62920
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.31e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.55e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.814528e6

QD
type: SiteQuality
SIO_000300: 1.213e1

MQRankSum
type: SiteQuality
SIO_000300: -2.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.082e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.64e-1

GenotypeQuality
all individuals: 791
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 12
allele frequency: 2.016129032258064e-3
allele num: 5952
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10036
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.076124567474048e-4
allele num: 14450
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9048
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.469135802469136e-3
allele num: 810
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7592
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 37
allele frequency: 6.267362287417847e-4
allele num: 59036
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.432e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.11e-1

MQ
type: SiteQuality
SIO_000300: 5.981e1

FS
type: SiteQuality
SIO_000300: 5.93e-1

DP
type: SiteQuality
SIO_000300: 1.702298e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

MQRankSum
type: SiteQuality
SIO_000300: 8.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.05e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.12e0

GenotypeQuality
all individuals: 781
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5920
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9018
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9970
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.705611461709023e-5
allele num: 58630
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14396
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7560
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 810
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.14e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.2e-1

DP
type: SiteQuality
SIO_000300: 1.692601e6

MQRankSum
type: SiteQuality
SIO_000300: 8.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.7e0

FS
type: SiteQuality
SIO_000300: 1.098e0

QD
type: SiteQuality
SIO_000300: 1.261e1

GenotypeQuality
all individuals: 7811
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8884
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9718
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5824
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7378
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.030371203599551e-5
allele num: 14224
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 796
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57360
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.053e0

QD
type: SiteQuality
SIO_000300: 1.232e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -6.909999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.48e-1

MQ
type: SiteQuality
SIO_000300: 5.99e1

FS
type: SiteQuality
SIO_000300: 1.202e0

DP
type: SiteQuality
SIO_000300: 1.65982e6

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 6.17e-1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14168
num of homozygotes: 0

Latino
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allele frequency: 2.0755500207555e-4
allele num: 9636
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 788
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.12943302462164e-4
allele num: 8854
num of homozygotes: 0

European (Finnish)
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allele count: 7
allele frequency: 1.206064782908339e-3
allele num: 5804
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 57
allele frequency: 9.991586032814471e-4
allele num: 57048
num of homozygotes: 0

DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
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FS
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MQ
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MQRankSum
type: SiteQuality
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VQSLOD
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QD
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5552
num of homozygotes: 0

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

African
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allele frequency: 1.179801793298726e-4
allele num: 8476
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 54272
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East Asian
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South Asian
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allele frequency: 0.0e0
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ClippingRankSum
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MQRankSum
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MQ
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ReadPosRankSum
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QD
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VQSLOD
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BaseQRankSum
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FS
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DP
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InbreedingCoeff
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

Other
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allele frequency: 0.0e0
allele num: 748
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5452
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East Asian
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South Asian
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.884516809889944e-5
allele num: 53064
num of homozygotes: 0

African
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MQRankSum
type: SiteQuality
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QD
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InbreedingCoeff
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.925e1

DP
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.222e0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 47734
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Latino
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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African
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allele count: 1
allele frequency: 1.30582397492818e-4
allele num: 7658
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East Asian
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allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

ReadPosRankSum
type: SiteQuality
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FS
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InbreedingCoeff
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 5.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.318e1

DP
type: SiteQuality
SIO_000300: 1.391965e6

GenotypeQuality
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bin: 9.75e1
variant carriers: 4

African
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allele frequency: 0.0e0
allele num: 7568
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Latino
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South Asian
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allele frequency: 3.125976867771178e-4
allele num: 12796
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Other
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allele frequency: 0.0e0
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VQSLOD
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MQRankSum
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BaseQRankSum
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
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QD
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InbreedingCoeff
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MQ
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DP
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FS
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.277281836400073e-5
allele num: 43912
num of homozygotes: 0

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

DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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MQ
type: SiteQuality
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FS
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 4

South Asian
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allele frequency: 0.0e0
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Other
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 4
allele frequency: 1.035947373873407e-4
allele num: 38612
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele num: 5652
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QD
type: SiteQuality
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MQRankSum
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MQ
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InbreedingCoeff
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BaseQRankSum
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FS
type: SiteQuality
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ClippingRankSum
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ReadPosRankSum
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

South Asian
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allele frequency: 0.0e0
allele num: 11032
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 2.90056851142824e-5
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African
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East Asian
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Latino
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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BaseQRankSum
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QD
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InbreedingCoeff
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SIO_000300: -1.67e-2

ClippingRankSum
type: SiteQuality
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FS
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.122126e6

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

East Asian
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allele frequency: 6.195786864931846e-4
allele num: 3228
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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Other
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allele num: 486
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African
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South Asian
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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InbreedingCoeff
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QD
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FS
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ClippingRankSum
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DP
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MQRankSum
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BaseQRankSum
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MQ
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VQSLOD
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ReadPosRankSum
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

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

Other
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South Asian
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Latino
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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MQ
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VQSLOD
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FS
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QD
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DP
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

East Asian
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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Latino
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African
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South Asian
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European (Finnish)
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allele frequency: 0.0e0
allele num: 2856
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MQRankSum
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VQSLOD
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MQ
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InbreedingCoeff
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FS
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QD
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BaseQRankSum
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ClippingRankSum
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DP
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ReadPosRankSum
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GenotypeQuality
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variant carriers: 0

South Asian
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European (Finnish)
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num of homozygotes: 0

Latino
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African
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European (Non-Finnish)
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East Asian
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Other
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MQRankSum
type: SiteQuality
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FS
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BaseQRankSum
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InbreedingCoeff
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DP
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ReadPosRankSum
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VQSLOD
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MQ
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QD
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ClippingRankSum
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European (Non-Finnish)
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East Asian
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European (Finnish)
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African
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South Asian
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Other
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ClippingRankSum
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FS
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VQSLOD
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DP
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QD
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InbreedingCoeff
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MQ
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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European (Non-Finnish)
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African
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European (Finnish)
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Latino
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South Asian
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Other
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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DP
type: SiteQuality
SIO_000300: 1.579493e6

MQRankSum
type: SiteQuality
SIO_000300: 7.95e-1

FS
type: SiteQuality
SIO_000300: 8.61e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

QD
type: SiteQuality
SIO_000300: 1.102e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.31e0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16384
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514417252241338e-5
allele num: 66032
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.695652173913044e-5
allele num: 11500
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6330
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.590000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.82e0

MQRankSum
type: SiteQuality
SIO_000300: 2.59e-1

QD
type: SiteQuality
SIO_000300: 1.134e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.06e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 1.583125e6

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514050387596899e-5
allele num: 66048
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10228
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16388
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.581e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.5e0

MQRankSum
type: SiteQuality
SIO_000300: 7.57e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.099999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.17e0

DP
type: SiteQuality
SIO_000300: 1.585418e6

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10246
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66098
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.219363492257042e-4
allele num: 16402
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6354
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.595538e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.947e1

MQRankSum
type: SiteQuality
SIO_000300: 3.38e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.183e0

VQSLOD
type: SiteQuality
SIO_000300: 1.72e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 8.77e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.51e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.57e0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66312
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.73550850399167e-4
allele num: 11524
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6414
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.703085581214826e-5
allele num: 10306
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.6e-2

VQSLOD
type: SiteQuality
SIO_000300: -5.675e-1

FS
type: SiteQuality
SIO_000300: 9.334e0

DP
type: SiteQuality
SIO_000300: 1.610949e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.6e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.64e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.034e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.066e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

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

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

East Asian
type: Population
allele count: 8
allele frequency: 9.319664492078285e-4
allele num: 8584
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10318
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16436
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.613059e6

VQSLOD
type: SiteQuality
SIO_000300: 1.5e0

QD
type: SiteQuality
SIO_000300: 1.082e1

FS
type: SiteQuality
SIO_000300: 6.04e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.57e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.86e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.946e1

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

European (Non-Finnish)
type: Population
allele count: 31
allele frequency: 4.667409437200759e-4
allele num: 66418
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.21654501216545e-4
allele num: 16440
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 4.337265787647467e-4
allele num: 11528
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6424
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.906413485758574e-4
allele num: 10322
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.6e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.646e0

VQSLOD
type: SiteQuality
SIO_000300: 1.86e0

DP
type: SiteQuality
SIO_000300: 1.615553e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.07e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.49e-1

FS
type: SiteQuality
SIO_000300: 2.128e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 1.025e1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6432
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.0790273556231e-5
allele num: 16450
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504709741490866e-5
allele num: 66458
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.73e-1

QD
type: SiteQuality
SIO_000300: 1.121e1

MQRankSum
type: SiteQuality
SIO_000300: -1.92e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.26e0

DP
type: SiteQuality
SIO_000300: 1.617093e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.956e1

FS
type: SiteQuality
SIO_000300: 7.343e0

VQSLOD
type: SiteQuality
SIO_000300: 4.77e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.0e-1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16472
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10354
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6498
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502268425322237e-5
allele num: 66566
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.19e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.452e0

MQ
type: SiteQuality
SIO_000300: 5.655e1

VQSLOD
type: SiteQuality
SIO_000300: -1.852e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.364e1

DP
type: SiteQuality
SIO_000300: 1.624009e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.394e0

MQRankSum
type: SiteQuality
SIO_000300: 4.51e-1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6510
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502042778178322e-5
allele num: 66576
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.624905e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.108e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.41e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.4e0

QD
type: SiteQuality
SIO_000300: 1.049e1

MQRankSum
type: SiteQuality
SIO_000300: 1.09e0

MQ
type: SiteQuality
SIO_000300: 5.971e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

Latino
type: Population
allele count: 1
allele frequency: 8.661008141347653e-5
allele num: 11546
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.652509652509652e-5
allele num: 10360
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502042778178322e-5
allele num: 66576
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 1.098e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.0e-2

DP
type: SiteQuality
SIO_000300: 1.62564e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.14e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.962e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.36e-1

FS
type: SiteQuality
SIO_000300: 4.225e0

VQSLOD
type: SiteQuality
SIO_000300: 7.72e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.72e-1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Finnish)
type: Population
allele count: 1
allele frequency: 1.532332209623046e-4
allele num: 6526
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.002552169343942e-5
allele num: 66610
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.9e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.95e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.86e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.19e-1

DP
type: SiteQuality
SIO_000300: 1.626816e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.4e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.22e-1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6526
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501276084671971e-5
allele num: 66610
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.95e-1

MQ
type: SiteQuality
SIO_000300: 5.9e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

QD
type: SiteQuality
SIO_000300: 9.4e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.22e-1

DP
type: SiteQuality
SIO_000300: 1.626816e6

VQSLOD
type: SiteQuality
SIO_000300: 5.86e-1

East Asian
type: Population
allele count: 22
allele frequency: 2.55338904363974e-3
allele num: 8616
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 32
allele frequency: 4.803794998048458e-4
allele num: 66614
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.464403256539061e-4
allele num: 11546
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.928268414963363e-4
allele num: 10372
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.108647450110865e-3
allele num: 902
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.213444970270598e-4
allele num: 16482
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.5e-1

FS
type: SiteQuality
SIO_000300: 1.863e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.59e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.97e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.06e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.95e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

QD
type: SiteQuality
SIO_000300: 1.17e1

DP
type: SiteQuality
SIO_000300: 1.629563e6

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

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.526717557251908e-4
allele num: 6550
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.217294900221729e-3
allele num: 902
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 147
allele frequency: 2.206544581206845e-3
allele num: 66620
num of homozygotes: 1

Latino
type: Population
allele count: 7
allele frequency: 6.061655697956356e-4
allele num: 11548
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 5.781460782424359e-4
allele num: 10378
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.864e0

VQSLOD
type: SiteQuality
SIO_000300: 3.34e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.87e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.06e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -9.1e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.93e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.63e0

DP
type: SiteQuality
SIO_000300: 1.632529e6

QD
type: SiteQuality
SIO_000300: 1.11e1

MQ
type: SiteQuality
SIO_000300: 5.971e1

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.050703971661013e-4
allele num: 66622
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 13
allele frequency: 1.125736058191895e-3
allele num: 11548
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.108647450110865e-3
allele num: 902
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

African
type: Population
allele count: 175
allele frequency: 1.685934489402698e-2
allele num: 10380
num of homozygotes: 1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.65e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.52e0

MQRankSum
type: SiteQuality
SIO_000300: 2.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.13e-2

MQ
type: SiteQuality
SIO_000300: 5.959e1

FS
type: SiteQuality
SIO_000300: 1.861e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.79e-1

DP
type: SiteQuality
SIO_000300: 1.634162e6

QD
type: SiteQuality
SIO_000300: 1.11e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.18e-1

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
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: 0
allele frequency: 0.0e0
allele num: 66632
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.115e0

MQ
type: SiteQuality
SIO_000300: 5.919e1

VQSLOD
type: SiteQuality
SIO_000300: -8.203e-1

FS
type: SiteQuality
SIO_000300: 2.423e0

QD
type: SiteQuality
SIO_000300: 8.57e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.82e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.600000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.76e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.629443e6

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66630
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.656509695290859e-5
allele num: 11552
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.629423e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.24e-1

MQ
type: SiteQuality
SIO_000300: 5.917e1

MQRankSum
type: SiteQuality
SIO_000300: -3.72e-1

QD
type: SiteQuality
SIO_000300: 1.059e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 9.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.01e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.0e-3

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.658008658008658e-5
allele num: 11550
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66628
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.956e1

DP
type: SiteQuality
SIO_000300: 1.630184e6

MQRankSum
type: SiteQuality
SIO_000300: -1.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.326e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.43e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.6e-2

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.065752759917505e-5
allele num: 16486
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 8.97e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.66e0

QD
type: SiteQuality
SIO_000300: 1.327e1

MQ
type: SiteQuality
SIO_000300: 5.927e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.96e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.71e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.45e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.946e0

DP
type: SiteQuality
SIO_000300: 1.629996e6

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

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.63948332369385e-5
allele num: 10374
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66586
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.01e-1

QD
type: SiteQuality
SIO_000300: 1.143e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.33e-1

FS
type: SiteQuality
SIO_000300: 5.792e0

DP
type: SiteQuality
SIO_000300: 1.629121e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.09e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.157e0

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

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

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.214034235765449e-4
allele num: 16474
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.7e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e0

VQSLOD
type: SiteQuality
SIO_000300: 6.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.58e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.74e-1

QD
type: SiteQuality
SIO_000300: 1.185e1

MQRankSum
type: SiteQuality
SIO_000300: -8.999999999999999e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.628959e6

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

African
type: Population
allele count: 122
allele frequency: 1.176243733127651e-2
allele num: 10372
num of homozygotes: 1

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

Latino
type: Population
allele count: 4
allele frequency: 3.465603881476347e-4
allele num: 11542
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.214034235765449e-4
allele num: 16474
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.506805275966709e-5
allele num: 66566
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.632841e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.32e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.49e0

QD
type: SiteQuality
SIO_000300: 1.401e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.95e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.99e-1

FS
type: SiteQuality
SIO_000300: 5.18e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.97e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10364
num of homozygotes: 0

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

East Asian
type: Population
allele count: 3
allele frequency: 3.484320557491289e-4
allele num: 8610
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.953e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.53e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.31e0

QD
type: SiteQuality
SIO_000300: 1.613e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.19e-1

FS
type: SiteQuality
SIO_000300: 3.493e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.84e-2

MQRankSum
type: SiteQuality
SIO_000300: 9.63e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.232e0

DP
type: SiteQuality
SIO_000300: 1.628119e6

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503216884132043e-5
allele num: 66524
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 3.52e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.7e-1

DP
type: SiteQuality
SIO_000300: 1.625785e6

VQSLOD
type: SiteQuality
SIO_000300: 7.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.21e-1

FS
type: SiteQuality
SIO_000300: 1.482e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.36e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.526e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.986e0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.352935870839722e-4
allele num: 66522
num of homozygotes: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10352
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MQRankSum
type: SiteQuality
SIO_000300: 1.92e-1

DP
type: SiteQuality
SIO_000300: 1.626986e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.38e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.14e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.3e-3

QD
type: SiteQuality
SIO_000300: 1.439e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.75e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.0e-2

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.090133982947625e-5
allele num: 16420
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.07e-1

MQ
type: SiteQuality
SIO_000300: 5.955e1

FS
type: SiteQuality
SIO_000300: 6.909999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.624434e6

VQSLOD
type: SiteQuality
SIO_000300: 9.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.19e-2

QD
type: SiteQuality
SIO_000300: 1.385e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.998e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e-1

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504483360414034e-5
allele num: 66468
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11520
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.953e1

FS
type: SiteQuality
SIO_000300: 2.835e0

VQSLOD
type: SiteQuality
SIO_000300: 8.72e-1

QD
type: SiteQuality
SIO_000300: 9.91e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.66e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.189e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.39e-1

DP
type: SiteQuality
SIO_000300: 1.623522e6

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

Latino
type: Population
allele count: 4
allele frequency: 3.475238922675934e-4
allele num: 11510
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10324
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66454
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.113e0

QD
type: SiteQuality
SIO_000300: 1.227e1

VQSLOD
type: SiteQuality
SIO_000300: 3.42e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.23e0

MQ
type: SiteQuality
SIO_000300: 5.952e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.622114e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.32e-1

FS
type: SiteQuality
SIO_000300: 2.731e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.09e-1

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.011322572874006e-5
allele num: 66416
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16358
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.478e1

VQSLOD
type: SiteQuality
SIO_000300: 2.87e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.171e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.483e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 5.600000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.619885e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.07e0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8584
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66386
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10298
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.14e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

DP
type: SiteQuality
SIO_000300: 1.618781e6

MQRankSum
type: SiteQuality
SIO_000300: 8.82e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.62e-1

QD
type: SiteQuality
SIO_000300: 1.008e1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16344
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East Asian
type: Population
allele count: 1
allele frequency: 1.164958061509786e-4
allele num: 8584
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10298
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
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VQSLOD
type: SiteQuality
SIO_000300: 4.72e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 8.82e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.62e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.618781e6

QD
type: SiteQuality
SIO_000300: 1.008e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.14e0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10274
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8574
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.034638826866212e-5
allele num: 66284
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European (Finnish)
type: Population
allele count: 1
allele frequency: 1.527650473571647e-4
allele num: 6546
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South Asian
type: Population
allele count: 0
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VQSLOD
type: SiteQuality
SIO_000300: 8.28e-1

DP
type: SiteQuality
SIO_000300: 1.61536e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.725e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -3.73e-1

FS
type: SiteQuality
SIO_000300: 4.81e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e-2

QD
type: SiteQuality
SIO_000300: 1.371e1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11484
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6542
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508841813024323e-5
allele num: 66276
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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DP
type: SiteQuality
SIO_000300: 1.613868e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.15e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.14e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.44e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.81e-1

FS
type: SiteQuality
SIO_000300: 1.344e0

QD
type: SiteQuality
SIO_000300: 1.33e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.4e0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10262
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.509115054931788e-5
allele num: 66264
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South Asian
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6538
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East Asian
type: Population
allele count: 0
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DP
type: SiteQuality
SIO_000300: 1.613045e6

FS
type: SiteQuality
SIO_000300: 4.837e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.43e-1

MQ
type: SiteQuality
SIO_000300: 5.942e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -4.75e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.23e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.26e-1

QD
type: SiteQuality
SIO_000300: 1.326e1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.513134003147319e-5
allele num: 66088
num of homozygotes: 0

Other
type: Population
allele count: 0
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allele num: 892
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8550
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10204
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6494
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11460
num of homozygotes: 0

South Asian
type: Population
allele count: 0
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FS
type: SiteQuality
SIO_000300: 4.502e0

VQSLOD
type: SiteQuality
SIO_000300: -1.995e0

QD
type: SiteQuality
SIO_000300: 2.89e1

MQRankSum
type: SiteQuality
SIO_000300: -2.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.85e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.357e0

DP
type: SiteQuality
SIO_000300: 1.60847e6

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

African
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allele count: 1
allele frequency: 9.803921568627451e-5
allele num: 10200
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East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6522
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.513134003147319e-5
allele num: 66088
num of homozygotes: 0

South Asian
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allele num: 16200
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VQSLOD
type: SiteQuality
SIO_000300: -3.538e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 2.274e1

MQRankSum
type: SiteQuality
SIO_000300: -1.91e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.8e-2

FS
type: SiteQuality
SIO_000300: 1.201e1

DP
type: SiteQuality
SIO_000300: 1.607364e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.600000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.11e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

Other
type: Population
allele count: 1
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allele num: 894
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African
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allele count: 1
allele frequency: 9.803921568627451e-5
allele num: 10200
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Latino
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allele count: 1
allele frequency: 8.739730816290858e-5
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East Asian
type: Population
allele count: 1
allele frequency: 1.170138076293003e-4
allele num: 8546
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6518
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.513546238837597e-5
allele num: 66070
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.526e0

MQRankSum
type: SiteQuality
SIO_000300: -3.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.28e-1

QD
type: SiteQuality
SIO_000300: 1.081e1

DP
type: SiteQuality
SIO_000300: 1.60834e6

MQ
type: SiteQuality
SIO_000300: 5.95e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.59e0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6522
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66056
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.180469715698394e-5
allele num: 16180
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Other
type: Population
allele count: 0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 2
allele frequency: 1.961938395134393e-4
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DP
type: SiteQuality
SIO_000300: 1.605302e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.070000000000001e-1

FS
type: SiteQuality
SIO_000300: 5.283e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.65e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.11e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.01e-1

QD
type: SiteQuality
SIO_000300: 1.34e1

VQSLOD
type: SiteQuality
SIO_000300: 1.63e0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6480
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.918666931164451e-5
allele num: 10082
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11382
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16032
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.521699433927811e-5
allele num: 65716
num of homozygotes: 0

Other
type: Population
allele count: 0
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allele num: 886
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ClippingRankSum
type: SiteQuality
SIO_000300: -7.87e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.56e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.55e-1

FS
type: SiteQuality
SIO_000300: 3.806e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -8.165e-1

QD
type: SiteQuality
SIO_000300: 1.978e1

MQ
type: SiteQuality
SIO_000300: 5.963e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.330000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.591139e6

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.044510747122937e-5
allele num: 65692
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.176470588235294e-4
allele num: 8500
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
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South Asian
type: Population
allele count: 0
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allele num: 16030
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QD
type: SiteQuality
SIO_000300: 1.346e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.92e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.13e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.12e0

DP
type: SiteQuality
SIO_000300: 1.591192e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.9e-2

MQ
type: SiteQuality
SIO_000300: 5.945e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10064
num of homozygotes: 0

Latino
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allele count: 0
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num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.177856301531213e-4
allele num: 8490
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16002
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65684
num of homozygotes: 0

Other
type: Population
allele count: 0
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VQSLOD
type: SiteQuality
SIO_000300: -1.469e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.34e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -7.199999999999999e-2

QD
type: SiteQuality
SIO_000300: 5.43e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.200000000000001e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.9e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.05e-1

DP
type: SiteQuality
SIO_000300: 1.589291e6

African
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allele count: 0
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allele num: 10016
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South Asian
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allele count: 1
allele frequency: 6.273525721455458e-5
allele num: 15940
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65470
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8462
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6442
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DP
type: SiteQuality
SIO_000300: 1.57901e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -2.11e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.34e-1

QD
type: SiteQuality
SIO_000300: 1.843e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.200000000000001e-3

FS
type: SiteQuality
SIO_000300: 1.6833e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.961e0

VQSLOD
type: SiteQuality
SIO_000300: -1.149e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.128e0

Latino
type: Population
allele count: 0
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allele num: 11278
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.187084520417854e-4
allele num: 8424
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15860
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.381554709566499e-4
allele num: 65144
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.006846556584777e-4
allele num: 9932
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Other
type: Population
allele count: 0
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QD
type: SiteQuality
SIO_000300: 1.302e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.29e-1

DP
type: SiteQuality
SIO_000300: 1.56653e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.68e0

VQSLOD
type: SiteQuality
SIO_000300: 1.51e0

FS
type: SiteQuality
SIO_000300: 1.153e0

MQRankSum
type: SiteQuality
SIO_000300: -5.49e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.76e-1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.537231753059091e-5
allele num: 65052
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
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allele num: 15842
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.938e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.36e-1

DP
type: SiteQuality
SIO_000300: 1.562881e6

FS
type: SiteQuality
SIO_000300: 2.787e0

QD
type: SiteQuality
SIO_000300: 9.640000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.17e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.95e0

Latino
type: Population
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num of homozygotes: 0

African
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allele count: 0
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South Asian
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allele count: 0
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num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8302
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6274
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Other
type: Population
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allele num: 866
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ReadPosRankSum
type: SiteQuality
SIO_000300: 9.340000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

DP
type: SiteQuality
SIO_000300: 1.521818e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.500000000000001e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.746e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.862e0

MQRankSum
type: SiteQuality
SIO_000300: -3.68e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.360000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.422e1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9656
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.079353550027238e-5
allele num: 11014
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63750
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8238
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6206
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.429999999999999e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.14e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.29e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.629e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

MQ
type: SiteQuality
SIO_000300: 5.795e1

QD
type: SiteQuality
SIO_000300: 1.27e1

DP
type: SiteQuality
SIO_000300: 1.493906e6

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6206
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.705882352941177e-5
allele num: 63750
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9656
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11014
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8238
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.795e1

MQRankSum
type: SiteQuality
SIO_000300: 1.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.29e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.27e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.14e-1

DP
type: SiteQuality
SIO_000300: 1.493906e6

VQSLOD
type: SiteQuality
SIO_000300: -1.629e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.429999999999999e-1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9416
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15280
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.487562189054726e-4
allele num: 8040
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6032
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10740
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.602923732888789e-5
allele num: 62386
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.422691e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.368e0

FS
type: SiteQuality
SIO_000300: 4.687e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

MQRankSum
type: SiteQuality
SIO_000300: -5.92e-1

MQ
type: SiteQuality
SIO_000300: 5.942e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.18e-1

QD
type: SiteQuality
SIO_000300: 8.18e0

VQSLOD
type: SiteQuality
SIO_000300: -3.054e-1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9068
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10214
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5818
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.319391887406227e-5
allele num: 60252
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7692
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14894
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.13e-1

FS
type: SiteQuality
SIO_000300: 1.325e0

VQSLOD
type: SiteQuality
SIO_000300: -1.615e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.41e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.18e-1

DP
type: SiteQuality
SIO_000300: 1.251352e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

QD
type: SiteQuality
SIO_000300: 8.27e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.82e-1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8790
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.709752427848448e-5
allele num: 58488
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9880
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14430
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5606
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

MQ
type: SiteQuality
SIO_000300: 5.976e1

VQSLOD
type: SiteQuality
SIO_000300: 1.78e0

FS
type: SiteQuality
SIO_000300: 9.04e-1

QD
type: SiteQuality
SIO_000300: 1.333e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.09e0

MQRankSum
type: SiteQuality
SIO_000300: -4.88e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.156e0

DP
type: SiteQuality
SIO_000300: 1.14262e6

South Asian
type: Population
allele count: 2
allele frequency: 1.386001386001386e-4
allele num: 14430
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7458
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9880
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58488
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5606
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.976e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.156e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.09e0

FS
type: SiteQuality
SIO_000300: 9.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.78e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

QD
type: SiteQuality
SIO_000300: 1.333e1

MQRankSum
type: SiteQuality
SIO_000300: -4.88e-1

DP
type: SiteQuality
SIO_000300: 1.14262e6

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9846
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.141552511415525e-4
allele num: 8760
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5596
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14370
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58220
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7398
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.0284e1

MQRankSum
type: SiteQuality
SIO_000300: 2.93e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.083e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.82e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.583e0

QD
type: SiteQuality
SIO_000300: 3.147e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

DP
type: SiteQuality
SIO_000300: 1.132865e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.27e-1