21-40768754-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40768754
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 40768754
    reference: chr 21
allele count: 1
allele frequency: 8.242392271933006e-6
allele num: 121324
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl transcript: ENST00000466787
  gene symbol: WRB
  hgvsc: ENST00000466787.1:n.1028-38C>T
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000381737
  ensembl transcript: ENST00000398753
  gene symbol: WRB
  hgvsc: ENST00000398753.1:c.350-38C>T
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000410228
  ensembl transcript: ENST00000415847
  gene symbol: WRB
  hgvsc: ENST00000415847.2:c.174+3548C>T
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000327716
  ensembl transcript: ENST00000333781
  gene symbol: WRB
  hgvsc: ENST00000333781.5:c.452-38C>T
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000445363
  ensembl transcript: ENST00000541890
  gene symbol: WRB
  hgvsc: ENST00000541890.1:c.451+3548C>T
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl transcript: ENST00000490860
  gene symbol: WRB
  hgvsc: ENST00000490860.1:n.386-38C>T
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000370084
  ensembl transcript: ENST00000380708
  gene symbol: WRB
  hgvsc: ENST00000380708.1:c.350-38C>T
  variant of: http://identifiers.org/hgnc/12790
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2551
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5190
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12314
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9913
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3402
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9370
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2801
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7781
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2565
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6050
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4824
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23303
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD

21-40768762-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40768762
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 40768762
    reference: chr 21
allele count: 20
allele frequency: 1.648451280022419e-4
allele num: 121326
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000370084
  ensembl transcript: ENST00000380708
  gene symbol: WRB
  hgvsc: ENST00000380708.1:c.350-30C>T
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl transcript: ENST00000490860
  gene symbol: WRB
  hgvsc: ENST00000490860.1:n.386-30C>T
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000327716
  ensembl transcript: ENST00000333781
  gene symbol: WRB
  hgvsc: ENST00000333781.5:c.452-30C>T
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000381737
  ensembl transcript: ENST00000398753
  gene symbol: WRB
  hgvsc: ENST00000398753.1:c.350-30C>T
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000445363
  ensembl transcript: ENST00000541890
  gene symbol: WRB
  hgvsc: ENST00000541890.1:c.451+3556C>T
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl transcript: ENST00000466787
  gene symbol: WRB
  hgvsc: ENST00000466787.1:n.1028-30C>T
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000410228
  ensembl transcript: ENST00000415847
  gene symbol: WRB
  hgvsc: ENST00000415847.2:c.174+3556C>T
  variant of: http://identifiers.org/hgnc/12790
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2557
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3406
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5197
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2807
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7788
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12367
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9916
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9473
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4101
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4822
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5138
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

21-40768763-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40768763
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 40768763
    reference: chr 21
allele count: 4
allele frequency: 3.296250515039143e-5
allele num: 121350
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000445363
  ensembl transcript: ENST00000541890
  gene symbol: WRB
  hgvsc: ENST00000541890.1:c.451+3557G>A
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000410228
  ensembl transcript: ENST00000415847
  gene symbol: WRB
  hgvsc: ENST00000415847.2:c.174+3557G>A
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000370084
  ensembl transcript: ENST00000380708
  gene symbol: WRB
  hgvsc: ENST00000380708.1:c.350-29G>A
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl transcript: ENST00000490860
  gene symbol: WRB
  hgvsc: ENST00000490860.1:n.386-29G>A
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000327716
  ensembl transcript: ENST00000333781
  gene symbol: WRB
  hgvsc: ENST00000333781.5:c.452-29G>A
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000381737
  ensembl transcript: ENST00000398753
  gene symbol: WRB
  hgvsc: ENST00000398753.1:c.350-29G>A
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl transcript: ENST00000466787
  gene symbol: WRB
  hgvsc: ENST00000466787.1:n.1028-29G>A
  variant of: http://identifiers.org/hgnc/12790
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9520
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7777
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12369
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2829
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2550
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9911
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5192
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3405
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4825
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5151
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23298
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

21-40768769-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40768769
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 40768769
    reference: chr 21
allele count: 1
allele frequency: 8.240083060037246e-6
allele num: 121358
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl transcript: ENST00000466787
  gene symbol: WRB
  hgvsc: ENST00000466787.1:n.1028-23A>T
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000370084
  ensembl transcript: ENST00000380708
  gene symbol: WRB
  hgvsc: ENST00000380708.1:c.350-23A>T
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000327716
  ensembl transcript: ENST00000333781
  gene symbol: WRB
  hgvsc: ENST00000333781.5:c.452-23A>T
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000410228
  ensembl transcript: ENST00000415847
  gene symbol: WRB
  hgvsc: ENST00000415847.2:c.174+3563A>T
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000445363
  ensembl transcript: ENST00000541890
  gene symbol: WRB
  hgvsc: ENST00000541890.1:c.451+3563A>T
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl transcript: ENST00000490860
  gene symbol: WRB
  hgvsc: ENST00000490860.1:n.386-23A>T
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000381737
  ensembl transcript: ENST00000398753
  gene symbol: WRB
  hgvsc: ENST00000398753.1:c.350-23A>T
  variant of: http://identifiers.org/hgnc/12790
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5189
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12378
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3405
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9910
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7781
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2849
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9564
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2550
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11439
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4830
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5157
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3118
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum

21-40768773-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40768773
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 40768773
    reference: chr 21
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl transcript: ENST00000490860
  gene symbol: WRB
  hgvsc: ENST00000490860.1:n.386-19T>C
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl transcript: ENST00000466787
  gene symbol: WRB
  hgvsc: ENST00000466787.1:n.1028-19T>C
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000327716
  ensembl transcript: ENST00000333781
  gene symbol: WRB
  hgvsc: ENST00000333781.5:c.452-19T>C
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000370084
  ensembl transcript: ENST00000380708
  gene symbol: WRB
  hgvsc: ENST00000380708.1:c.350-19T>C
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000410228
  ensembl transcript: ENST00000415847
  gene symbol: WRB
  hgvsc: ENST00000415847.2:c.174+3567T>C
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000445363
  ensembl transcript: ENST00000541890
  gene symbol: WRB
  hgvsc: ENST00000541890.1:c.451+3567T>C
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000381737
  ensembl transcript: ENST00000398753
  gene symbol: WRB
  hgvsc: ENST00000398753.1:c.350-19T>C
  variant of: http://identifiers.org/hgnc/12790
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9577
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2551
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12378
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7781
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9909
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2857
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3403
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5189
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5156
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4108
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23298
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2563
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6088
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS

21-40768788-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40768788
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 40768788
    reference: chr 21
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000370084
  ensembl transcript: ENST00000380708
  gene symbol: WRB
  hgvsc: ENST00000380708.1:c.350-4T>C
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl transcript: ENST00000490860
  gene symbol: WRB
  hgvsc: ENST00000490860.1:n.386-4T>C
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000327716
  ensembl transcript: ENST00000333781
  gene symbol: WRB
  hgvsc: ENST00000333781.5:c.452-4T>C
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000445363
  ensembl transcript: ENST00000541890
  gene symbol: WRB
  hgvsc: ENST00000541890.1:c.451+3582T>C
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000410228
  ensembl transcript: ENST00000415847
  gene symbol: WRB
  hgvsc: ENST00000415847.2:c.174+3582T>C
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000381737
  ensembl transcript: ENST00000398753
  gene symbol: WRB
  hgvsc: ENST00000398753.1:c.350-4T>C
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl transcript: ENST00000466787
  gene symbol: WRB
  hgvsc: ENST00000466787.1:n.1028-4T>C
  variant of: http://identifiers.org/hgnc/12790
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5189
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3402
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9602
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7778
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2863
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9909
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12387
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2551
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6088
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5161
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2562
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4826
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
hgvs: c.452-4T>C
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/21-40768802-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40768802
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 40768802
    reference: chr 21
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000410228
  ensembl transcript: ENST00000415847
  gene symbol: WRB
  hgvsc: ENST00000415847.2:c.174+3596A>C
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182093
  ensembl transcript: ENST00000466787
  gene symbol: WRB
  hgvsc: ENST00000466787.1:n.1038A>C
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000370084
  ensembl transcript: ENST00000380708
  gene symbol: WRB
  hgvsc: ENST00000380708.1:c.360A>C
  hgvsp: ENST00000380708.1:c.360A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182093
  ensembl transcript: ENST00000490860
  gene symbol: WRB
  hgvsc: ENST00000490860.1:n.396A>C
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000327716
  ensembl transcript: ENST00000333781
  gene symbol: WRB
  hgvsc: ENST00000333781.5:c.462A>C
  hgvsp: ENST00000333781.5:c.462A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000381737
  ensembl transcript: ENST00000398753
  gene symbol: WRB
  hgvsc: ENST00000398753.1:c.360A>C
  hgvsp: ENST00000398753.1:c.360A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000445363
  ensembl transcript: ENST00000541890
  gene symbol: WRB
  hgvsc: ENST00000541890.1:c.451+3596A>C
  variant of: http://identifiers.org/hgnc/12790
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12386
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3402
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9607
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2868
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9910
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5189
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7778
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2550
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5160
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4108
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11522
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gly154Gly
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: Latino
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

21-40768806-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40768806
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 40768806
    reference: chr 21
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182093
  ensembl transcript: ENST00000466787
  gene symbol: WRB
  hgvsc: ENST00000466787.1:n.1042A>G
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000445363
  ensembl transcript: ENST00000541890
  gene symbol: WRB
  hgvsc: ENST00000541890.1:c.451+3600A>G
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000327716
  ensembl transcript: ENST00000333781
  gene symbol: WRB
  hgvsc: ENST00000333781.5:c.466A>G
  hgvsp: ENSP00000327716.5:p.Thr156Ala
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182093
  ensembl transcript: ENST00000490860
  gene symbol: WRB
  hgvsc: ENST00000490860.1:n.400A>G
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000370084
  ensembl transcript: ENST00000380708
  gene symbol: WRB
  hgvsc: ENST00000380708.1:c.364A>G
  hgvsp: ENSP00000370084.1:p.Thr122Ala
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000410228
  ensembl transcript: ENST00000415847
  gene symbol: WRB
  hgvsc: ENST00000415847.2:c.174+3600A>G
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000381737
  ensembl transcript: ENST00000398753
  gene symbol: WRB
  hgvsc: ENST00000398753.1:c.364A>G
  hgvsp: ENSP00000381737.1:p.Thr122Ala
  variant of: http://identifiers.org/hgnc/12790
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5189
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7778
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2870
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3402
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12385
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9608
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2551
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9910
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6089
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3120
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11525
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4108
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5160
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr156Ala
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD

21-40768810-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40768810
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 40768810
    reference: chr 21
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182093
  ensembl transcript: ENST00000490860
  gene symbol: WRB
  hgvsc: ENST00000490860.1:n.404G>C
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000410228
  ensembl transcript: ENST00000415847
  gene symbol: WRB
  hgvsc: ENST00000415847.2:c.174+3604G>C
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000445363
  ensembl transcript: ENST00000541890
  gene symbol: WRB
  hgvsc: ENST00000541890.1:c.451+3604G>C
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000381737
  ensembl transcript: ENST00000398753
  gene symbol: WRB
  hgvsc: ENST00000398753.1:c.368G>C
  hgvsp: ENSP00000381737.1:p.Cys123Ser
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000370084
  ensembl transcript: ENST00000380708
  gene symbol: WRB
  hgvsc: ENST00000380708.1:c.368G>C
  hgvsp: ENSP00000370084.1:p.Cys123Ser
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182093
  ensembl transcript: ENST00000466787
  gene symbol: WRB
  hgvsc: ENST00000466787.1:n.1046G>C
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000327716
  ensembl transcript: ENST00000333781
  gene symbol: WRB
  hgvsc: ENST00000333781.5:c.470G>C
  hgvsp: ENSP00000327716.5:p.Cys157Ser
  variant of: http://identifiers.org/hgnc/12790
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9608
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7778
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3402
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12384
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5189
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2550
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2874
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9910
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5160
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3120
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11532
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2562
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Cys157Ser
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

21-40768818-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40768818
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 40768818
    reference: chr 21
allele count: 3
allele frequency: 2.471128976458378e-5
allele num: 121402
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182093
  ensembl transcript: ENST00000466787
  gene symbol: WRB
  hgvsc: ENST00000466787.1:n.1054T>C
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000381737
  ensembl transcript: ENST00000398753
  gene symbol: WRB
  hgvsc: ENST00000398753.1:c.376T>C
  hgvsp: ENST00000398753.1:c.376T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000370084
  ensembl transcript: ENST00000380708
  gene symbol: WRB
  hgvsc: ENST00000380708.1:c.376T>C
  hgvsp: ENST00000380708.1:c.376T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000445363
  ensembl transcript: ENST00000541890
  gene symbol: WRB
  hgvsc: ENST00000541890.1:c.451+3612T>C
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000327716
  ensembl transcript: ENST00000333781
  gene symbol: WRB
  hgvsc: ENST00000333781.5:c.478T>C
  hgvsp: ENST00000333781.5:c.478T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000410228
  ensembl transcript: ENST00000415847
  gene symbol: WRB
  hgvsc: ENST00000415847.2:c.174+3612T>C
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182093
  ensembl transcript: ENST00000490860
  gene symbol: WRB
  hgvsc: ENST00000490860.1:n.412T>C
  variant of: http://identifiers.org/hgnc/12790
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9909
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12384
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2552
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2879
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7778
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9610
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5189
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3402
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2562
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5160
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3121
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4108
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6088
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23298
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Leu160Leu
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

21-40768841-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40768841
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 40768841
    reference: chr 21
allele count: 480
allele frequency: 3.953741227636651e-3
allele num: 121404
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000445363
  ensembl transcript: ENST00000541890
  gene symbol: WRB
  hgvsc: ENST00000541890.1:c.451+3635T>C
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000370084
  ensembl transcript: ENST00000380708
  gene symbol: WRB
  hgvsc: ENST00000380708.1:c.399T>C
  hgvsp: ENST00000380708.1:c.399T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000410228
  ensembl transcript: ENST00000415847
  gene symbol: WRB
  hgvsc: ENST00000415847.2:c.174+3635T>C
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182093
  ensembl transcript: ENST00000466787
  gene symbol: WRB
  hgvsc: ENST00000466787.1:n.1077T>C
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000381737
  ensembl transcript: ENST00000398753
  gene symbol: WRB
  hgvsc: ENST00000398753.1:c.399T>C
  hgvsp: ENST00000398753.1:c.399T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000327716
  ensembl transcript: ENST00000333781
  gene symbol: WRB
  hgvsc: ENST00000333781.5:c.501T>C
  hgvsp: ENST00000333781.5:c.501T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182093
  ensembl transcript: ENST00000490860
  gene symbol: WRB
  hgvsc: ENST00000490860.1:n.435T>C
  variant of: http://identifiers.org/hgnc/12790
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2185
  bin: 5.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 7.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 7717
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12338
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9581
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 9.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3359
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 9856
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2859
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 6.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 5134
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 7.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 2812
  bin: 9.75e1
  variant carriers: 295
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 8.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 8.25e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 6.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6077
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3103
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11517
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4804
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala167Ala
num of homozygotes: 3
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

21-40768855-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40768855
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 40768855
    reference: chr 21
allele count: 5
allele frequency: 4.118819711023609e-5
allele num: 121394
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000381737
  ensembl transcript: ENST00000398753
  gene symbol: WRB
  hgvsc: ENST00000398753.1:c.413C>T
  hgvsp: ENSP00000381737.1:p.Pro138Leu
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000370084
  ensembl transcript: ENST00000380708
  gene symbol: WRB
  hgvsc: ENST00000380708.1:c.413C>T
  hgvsp: ENSP00000370084.1:p.Pro138Leu
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000327716
  ensembl transcript: ENST00000333781
  gene symbol: WRB
  hgvsc: ENST00000333781.5:c.515C>T
  hgvsp: ENSP00000327716.5:p.Pro172Leu
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000410228
  ensembl transcript: ENST00000415847
  gene symbol: WRB
  hgvsc: ENST00000415847.2:c.174+3649C>T
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000445363
  ensembl transcript: ENST00000541890
  gene symbol: WRB
  hgvsc: ENST00000541890.1:c.451+3649C>T
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182093
  ensembl transcript: ENST00000490860
  gene symbol: WRB
  hgvsc: ENST00000490860.1:n.449C>T
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182093
  ensembl transcript: ENST00000466787
  gene symbol: WRB
  hgvsc: ENST00000466787.1:n.1091C>T
  variant of: http://identifiers.org/hgnc/12790
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2198
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2870
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3377
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9945
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12431
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9653
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7783
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5169
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2536
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23110
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11615
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4119
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro172Leu
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: DP
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

21-40768856-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40768856
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 40768856
    reference: chr 21
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000327716
  ensembl transcript: ENST00000333781
  gene symbol: WRB
  hgvsc: ENST00000333781.5:c.516G>A
  hgvsp: ENST00000333781.5:c.516G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000410228
  ensembl transcript: ENST00000415847
  gene symbol: WRB
  hgvsc: ENST00000415847.2:c.174+3650G>A
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182093
  ensembl transcript: ENST00000466787
  gene symbol: WRB
  hgvsc: ENST00000466787.1:n.1092G>A
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182093
  ensembl transcript: ENST00000490860
  gene symbol: WRB
  hgvsc: ENST00000490860.1:n.450G>A
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000370084
  ensembl transcript: ENST00000380708
  gene symbol: WRB
  hgvsc: ENST00000380708.1:c.414G>A
  hgvsp: ENST00000380708.1:c.414G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000381737
  ensembl transcript: ENST00000398753
  gene symbol: WRB
  hgvsc: ENST00000398753.1:c.414G>A
  hgvsp: ENST00000398753.1:c.414G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000445363
  ensembl transcript: ENST00000541890
  gene symbol: WRB
  hgvsc: ENST00000541890.1:c.451+3650G>A
  variant of: http://identifiers.org/hgnc/12790
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3348
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7735
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2864
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9905
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12412
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9635
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2180
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5124
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2690
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11605
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3114
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2561
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro172Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

21-40768856-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40768856
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 40768856
    reference: chr 21
allele count: 329
allele frequency: 2.710183369853535e-3
allele num: 121394
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000327716
  ensembl transcript: ENST00000333781
  gene symbol: WRB
  hgvsc: ENST00000333781.5:c.516G>T
  hgvsp: ENST00000333781.5:c.516G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000410228
  ensembl transcript: ENST00000415847
  gene symbol: WRB
  hgvsc: ENST00000415847.2:c.174+3650G>T
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182093
  ensembl transcript: ENST00000490860
  gene symbol: WRB
  hgvsc: ENST00000490860.1:n.450G>T
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182093
  ensembl transcript: ENST00000466787
  gene symbol: WRB
  hgvsc: ENST00000466787.1:n.1092G>T
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000381737
  ensembl transcript: ENST00000398753
  gene symbol: WRB
  hgvsc: ENST00000398753.1:c.414G>T
  hgvsp: ENST00000398753.1:c.414G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000370084
  ensembl transcript: ENST00000380708
  gene symbol: WRB
  hgvsc: ENST00000380708.1:c.414G>T
  hgvsp: ENST00000380708.1:c.414G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000445363
  ensembl transcript: ENST00000541890
  gene symbol: WRB
  hgvsc: ENST00000541890.1:c.451+3650G>T
  variant of: http://identifiers.org/hgnc/12790
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9905
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 7.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 8.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 12412
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2864
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 8.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 7735
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9635
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2180
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5124
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 9.25e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 2690
  bin: 9.75e1
  variant carriers: 167
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 6.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 7.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 3348
  bin: 5.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2561
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4827
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6128
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro172Pro
num of homozygotes: 1
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: African
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQ

21-40768859-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40768859
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 40768859
    reference: chr 21
allele count: 6
allele frequency: 4.94266508501384e-5
allele num: 121392
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000381737
  ensembl transcript: ENST00000398753
  gene symbol: WRB
  hgvsc: ENST00000398753.1:c.417C>T
  hgvsp: ENST00000398753.1:c.417C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000445363
  ensembl transcript: ENST00000541890
  gene symbol: WRB
  hgvsc: ENST00000541890.1:c.451+3653C>T
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182093
  ensembl transcript: ENST00000490860
  gene symbol: WRB
  hgvsc: ENST00000490860.1:n.453C>T
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000410228
  ensembl transcript: ENST00000415847
  gene symbol: WRB
  hgvsc: ENST00000415847.2:c.174+3653C>T
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000370084
  ensembl transcript: ENST00000380708
  gene symbol: WRB
  hgvsc: ENST00000380708.1:c.417C>T
  hgvsp: ENST00000380708.1:c.417C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182093
  ensembl transcript: ENST00000466787
  gene symbol: WRB
  hgvsc: ENST00000466787.1:n.1095C>T
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000327716
  ensembl transcript: ENST00000333781
  gene symbol: WRB
  hgvsc: ENST00000333781.5:c.519C>T
  hgvsp: ENST00000333781.5:c.519C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12790
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2863
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12487
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2193
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9954
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5143
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7784
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9698
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3365
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2530
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4133
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6160
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Phe173Phe
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

21-40768867-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40768867
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 40768867
    reference: chr 21
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000381737
  ensembl transcript: ENST00000398753
  gene symbol: WRB
  hgvsc: ENST00000398753.1:c.*2C>T
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000327716
  ensembl transcript: ENST00000333781
  gene symbol: WRB
  hgvsc: ENST00000333781.5:c.*2C>T
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000370084
  ensembl transcript: ENST00000380708
  gene symbol: WRB
  hgvsc: ENST00000380708.1:c.*2C>T
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182093
  ensembl transcript: ENST00000490860
  gene symbol: WRB
  hgvsc: ENST00000490860.1:n.461C>T
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000410228
  ensembl transcript: ENST00000415847
  gene symbol: WRB
  hgvsc: ENST00000415847.2:c.174+3661C>T
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000445363
  ensembl transcript: ENST00000541890
  gene symbol: WRB
  hgvsc: ENST00000541890.1:c.451+3661C>T
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182093
  ensembl transcript: ENST00000466787
  gene symbol: WRB
  hgvsc: ENST00000466787.1:n.1103C>T
  variant of: http://identifiers.org/hgnc/12790
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2850
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7785
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9704
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2525
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2194
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12486
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9953
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5143
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3366
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22956
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

21-40768883-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40768883
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 40768883
    reference: chr 21
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000445363
  ensembl transcript: ENST00000541890
  gene symbol: WRB
  hgvsc: ENST00000541890.1:c.451+3677G>C
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000327716
  ensembl transcript: ENST00000333781
  gene symbol: WRB
  hgvsc: ENST00000333781.5:c.*18G>C
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182093
  ensembl transcript: ENST00000490860
  gene symbol: WRB
  hgvsc: ENST00000490860.1:n.477G>C
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000410228
  ensembl transcript: ENST00000415847
  gene symbol: WRB
  hgvsc: ENST00000415847.2:c.174+3677G>C
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000370084
  ensembl transcript: ENST00000380708
  gene symbol: WRB
  hgvsc: ENST00000380708.1:c.*18G>C
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000381737
  ensembl transcript: ENST00000398753
  gene symbol: WRB
  hgvsc: ENST00000398753.1:c.*18G>C
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182093
  ensembl transcript: ENST00000466787
  gene symbol: WRB
  hgvsc: ENST00000466787.1:n.1119G>C
  variant of: http://identifiers.org/hgnc/12790
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12484
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9951
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2770
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3367
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9677
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2194
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7782
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2526
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5144
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11559
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3133
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP

21-40768885-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40768885
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 40768885
    reference: chr 21
allele count: 49
allele frequency: 4.037840332256576e-4
allele num: 121352
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000410228
  ensembl transcript: ENST00000415847
  gene symbol: WRB
  hgvsc: ENST00000415847.2:c.174+3679C>T
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182093
  ensembl transcript: ENST00000466787
  gene symbol: WRB
  hgvsc: ENST00000466787.1:n.1121C>T
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000445363
  ensembl transcript: ENST00000541890
  gene symbol: WRB
  hgvsc: ENST00000541890.1:c.451+3679C>T
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182093
  ensembl transcript: ENST00000490860
  gene symbol: WRB
  hgvsc: ENST00000490860.1:n.479C>T
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000370084
  ensembl transcript: ENST00000380708
  gene symbol: WRB
  hgvsc: ENST00000380708.1:c.*20C>T
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000381737
  ensembl transcript: ENST00000398753
  gene symbol: WRB
  hgvsc: ENST00000398753.1:c.*20C>T
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000327716
  ensembl transcript: ENST00000333781
  gene symbol: WRB
  hgvsc: ENST00000333781.5:c.*20C>T
  variant of: http://identifiers.org/hgnc/12790
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9947
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7781
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2733
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12480
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9656
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5146
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3367
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2197
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2528
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2572
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4130
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

21-40768886-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40768886
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 40768886
    reference: chr 21
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182093
  ensembl transcript: ENST00000490860
  gene symbol: WRB
  hgvsc: ENST00000490860.1:n.480G>A
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000327716
  ensembl transcript: ENST00000333781
  gene symbol: WRB
  hgvsc: ENST00000333781.5:c.*21G>A
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000410228
  ensembl transcript: ENST00000415847
  gene symbol: WRB
  hgvsc: ENST00000415847.2:c.174+3680G>A
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182093
  ensembl transcript: ENST00000466787
  gene symbol: WRB
  hgvsc: ENST00000466787.1:n.1122G>A
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000381737
  ensembl transcript: ENST00000398753
  gene symbol: WRB
  hgvsc: ENST00000398753.1:c.*21G>A
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000445363
  ensembl transcript: ENST00000541890
  gene symbol: WRB
  hgvsc: ENST00000541890.1:c.451+3680G>A
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000370084
  ensembl transcript: ENST00000380708
  gene symbol: WRB
  hgvsc: ENST00000380708.1:c.*21G>A
  variant of: http://identifiers.org/hgnc/12790
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12476
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9665
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5143
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3365
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2525
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7783
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2727
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9950
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11489
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22943
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4130
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

21-40768887-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40768887
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 40768887
    reference: chr 21
allele count: 2
allele frequency: 1.648098094798602e-5
allele num: 121352
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182093
  ensembl transcript: ENST00000490860
  gene symbol: WRB
  hgvsc: ENST00000490860.1:n.481C>T
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000381737
  ensembl transcript: ENST00000398753
  gene symbol: WRB
  hgvsc: ENST00000398753.1:c.*22C>T
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000410228
  ensembl transcript: ENST00000415847
  gene symbol: WRB
  hgvsc: ENST00000415847.2:c.174+3681C>T
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000445363
  ensembl transcript: ENST00000541890
  gene symbol: WRB
  hgvsc: ENST00000541890.1:c.451+3681C>T
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000327716
  ensembl transcript: ENST00000333781
  gene symbol: WRB
  hgvsc: ENST00000333781.5:c.*22C>T
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182093
  ensembl transcript: ENST00000466787
  gene symbol: WRB
  hgvsc: ENST00000466787.1:n.1123C>T
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000370084
  ensembl transcript: ENST00000380708
  gene symbol: WRB
  hgvsc: ENST00000380708.1:c.*22C>T
  variant of: http://identifiers.org/hgnc/12790
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12470
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7778
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9662
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2713
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5144
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3365
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9949
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2525
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4130
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5191
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6145
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4854
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum

21-40768888-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40768888
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 40768888
    reference: chr 21
allele count: 1
allele frequency: 8.240897928238261e-6
allele num: 121346
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000445363
  ensembl transcript: ENST00000541890
  gene symbol: WRB
  hgvsc: ENST00000541890.1:c.451+3682G>A
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000381737
  ensembl transcript: ENST00000398753
  gene symbol: WRB
  hgvsc: ENST00000398753.1:c.*23G>A
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182093
  ensembl transcript: ENST00000466787
  gene symbol: WRB
  hgvsc: ENST00000466787.1:n.1124G>A
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000410228
  ensembl transcript: ENST00000415847
  gene symbol: WRB
  hgvsc: ENST00000415847.2:c.174+3682G>A
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182093
  ensembl transcript: ENST00000490860
  gene symbol: WRB
  hgvsc: ENST00000490860.1:n.482G>A
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000370084
  ensembl transcript: ENST00000380708
  gene symbol: WRB
  hgvsc: ENST00000380708.1:c.*23G>A
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000327716
  ensembl transcript: ENST00000333781
  gene symbol: WRB
  hgvsc: ENST00000333781.5:c.*23G>A
  variant of: http://identifiers.org/hgnc/12790
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9944
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5144
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9661
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12461
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2699
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2525
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3364
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7780
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3122
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5191
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4854
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD

21-40768891-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40768891
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 40768891
    reference: chr 21
allele count: 1
allele frequency: 8.240897928238261e-6
allele num: 121346
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182093
  ensembl transcript: ENST00000466787
  gene symbol: WRB
  hgvsc: ENST00000466787.1:n.1127G>A
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000445363
  ensembl transcript: ENST00000541890
  gene symbol: WRB
  hgvsc: ENST00000541890.1:c.451+3685G>A
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000381737
  ensembl transcript: ENST00000398753
  gene symbol: WRB
  hgvsc: ENST00000398753.1:c.*26G>A
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000410228
  ensembl transcript: ENST00000415847
  gene symbol: WRB
  hgvsc: ENST00000415847.2:c.174+3685G>A
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182093
  ensembl transcript: ENST00000490860
  gene symbol: WRB
  hgvsc: ENST00000490860.1:n.485G>A
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000327716
  ensembl transcript: ENST00000333781
  gene symbol: WRB
  hgvsc: ENST00000333781.5:c.*26G>A
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000370084
  ensembl transcript: ENST00000380708
  gene symbol: WRB
  hgvsc: ENST00000380708.1:c.*26G>A
  variant of: http://identifiers.org/hgnc/12790
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7775
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5143
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12431
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3364
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2650
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9612
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9942
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2525
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6101
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22941
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2567
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD

21-40768892-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40768892
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 40768892
    reference: chr 21
allele count: 1
allele frequency: 8.240897928238261e-6
allele num: 121346
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000381737
  ensembl transcript: ENST00000398753
  gene symbol: WRB
  hgvsc: ENST00000398753.1:c.*27C>T
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000370084
  ensembl transcript: ENST00000380708
  gene symbol: WRB
  hgvsc: ENST00000380708.1:c.*27C>T
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182093
  ensembl transcript: ENST00000466787
  gene symbol: WRB
  hgvsc: ENST00000466787.1:n.1128C>T
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182093
  ensembl transcript: ENST00000490860
  gene symbol: WRB
  hgvsc: ENST00000490860.1:n.486C>T
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000410228
  ensembl transcript: ENST00000415847
  gene symbol: WRB
  hgvsc: ENST00000415847.2:c.174+3686C>T
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000327716
  ensembl transcript: ENST00000333781
  gene symbol: WRB
  hgvsc: ENST00000333781.5:c.*27C>T
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000445363
  ensembl transcript: ENST00000541890
  gene symbol: WRB
  hgvsc: ENST00000541890.1:c.451+3686C>T
  variant of: http://identifiers.org/hgnc/12790
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12445
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7772
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2647
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9606
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5142
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3365
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9938
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2525
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3115
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6092
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

21-40768893-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40768893
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 40768893
    reference: chr 21
allele count: 1
allele frequency: 8.241441263248117e-6
allele num: 121338
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000381737
  ensembl transcript: ENST00000398753
  gene symbol: WRB
  hgvsc: ENST00000398753.1:c.*28T>C
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182093
  ensembl transcript: ENST00000466787
  gene symbol: WRB
  hgvsc: ENST00000466787.1:n.1129T>C
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000327716
  ensembl transcript: ENST00000333781
  gene symbol: WRB
  hgvsc: ENST00000333781.5:c.*28T>C
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000445363
  ensembl transcript: ENST00000541890
  gene symbol: WRB
  hgvsc: ENST00000541890.1:c.451+3687T>C
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000370084
  ensembl transcript: ENST00000380708
  gene symbol: WRB
  hgvsc: ENST00000380708.1:c.*28T>C
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000410228
  ensembl transcript: ENST00000415847
  gene symbol: WRB
  hgvsc: ENST00000415847.2:c.174+3687T>C
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182093
  ensembl transcript: ENST00000490860
  gene symbol: WRB
  hgvsc: ENST00000490860.1:n.487T>C
  variant of: http://identifiers.org/hgnc/12790
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9930
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5142
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3364
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2525
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12418
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2190
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9588
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2655
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7776
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4129
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5182
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22936
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3112
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6085
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

21-40768899-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40768899
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 40768899
    reference: chr 21
allele count: 3
allele frequency: 2.472513887286333e-5
allele num: 121334
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182093
  ensembl transcript: ENST00000466787
  gene symbol: WRB
  hgvsc: ENST00000466787.1:n.1135A>G
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000410228
  ensembl transcript: ENST00000415847
  gene symbol: WRB
  hgvsc: ENST00000415847.2:c.174+3693A>G
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000381737
  ensembl transcript: ENST00000398753
  gene symbol: WRB
  hgvsc: ENST00000398753.1:c.*34A>G
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000327716
  ensembl transcript: ENST00000333781
  gene symbol: WRB
  hgvsc: ENST00000333781.5:c.*34A>G
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182093
  ensembl transcript: ENST00000490860
  gene symbol: WRB
  hgvsc: ENST00000490860.1:n.493A>G
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000370084
  ensembl transcript: ENST00000380708
  gene symbol: WRB
  hgvsc: ENST00000380708.1:c.*34A>G
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000445363
  ensembl transcript: ENST00000541890
  gene symbol: WRB
  hgvsc: ENST00000541890.1:c.451+3693A>G
  variant of: http://identifiers.org/hgnc/12790
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3362
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9444
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5139
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7766
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2525
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9911
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12322
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2587
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2190
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2566
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4130
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD

21-40768900-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40768900
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 40768900
    reference: chr 21
allele count: 3
allele frequency: 2.472717681579902e-5
allele num: 121324
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000370084
  ensembl transcript: ENST00000380708
  gene symbol: WRB
  hgvsc: ENST00000380708.1:c.*35C>T
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000327716
  ensembl transcript: ENST00000333781
  gene symbol: WRB
  hgvsc: ENST00000333781.5:c.*35C>T
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000410228
  ensembl transcript: ENST00000415847
  gene symbol: WRB
  hgvsc: ENST00000415847.2:c.174+3694C>T
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182093
  ensembl transcript: ENST00000490860
  gene symbol: WRB
  hgvsc: ENST00000490860.1:n.494C>T
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000381737
  ensembl transcript: ENST00000398753
  gene symbol: WRB
  hgvsc: ENST00000398753.1:c.*35C>T
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182093
  ensembl transcript: ENST00000466787
  gene symbol: WRB
  hgvsc: ENST00000466787.1:n.1136C>T
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000445363
  ensembl transcript: ENST00000541890
  gene symbol: WRB
  hgvsc: ENST00000541890.1:c.451+3694C>T
  variant of: http://identifiers.org/hgnc/12790
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9348
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3363
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2190
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7767
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9909
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2525
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2525
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12294
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5138
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4840
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4130
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6013
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP

21-40768901-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40768901
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 40768901
    reference: chr 21
allele count: 2
allele frequency: 1.648532805802836e-5
allele num: 121320
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000381737
  ensembl transcript: ENST00000398753
  gene symbol: WRB
  hgvsc: ENST00000398753.1:c.*36G>A
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000445363
  ensembl transcript: ENST00000541890
  gene symbol: WRB
  hgvsc: ENST00000541890.1:c.451+3695G>A
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000370084
  ensembl transcript: ENST00000380708
  gene symbol: WRB
  hgvsc: ENST00000380708.1:c.*36G>A
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182093
  ensembl transcript: ENST00000466787
  gene symbol: WRB
  hgvsc: ENST00000466787.1:n.1137G>A
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000327716
  ensembl transcript: ENST00000333781
  gene symbol: WRB
  hgvsc: ENST00000333781.5:c.*36G>A
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182093
  ensembl transcript: ENST00000490860
  gene symbol: WRB
  hgvsc: ENST00000490860.1:n.495G>A
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000410228
  ensembl transcript: ENST00000415847
  gene symbol: WRB
  hgvsc: ENST00000415847.2:c.174+3695G>A
  variant of: http://identifiers.org/hgnc/12790
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7770
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2536
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9900
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2190
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9377
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2525
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12258
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5142
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3362
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5155
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22925
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

21-40768908-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40768908
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 40768908
    reference: chr 21
allele count: 64
allele frequency: 5.277915223486722e-4
allele num: 121260
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000410228
  ensembl transcript: ENST00000415847
  gene symbol: WRB
  hgvsc: ENST00000415847.2:c.174+3702C>T
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000327716
  ensembl transcript: ENST00000333781
  gene symbol: WRB
  hgvsc: ENST00000333781.5:c.*43C>T
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000381737
  ensembl transcript: ENST00000398753
  gene symbol: WRB
  hgvsc: ENST00000398753.1:c.*43C>T
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182093
  ensembl transcript: ENST00000490860
  gene symbol: WRB
  hgvsc: ENST00000490860.1:n.502C>T
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000370084
  ensembl transcript: ENST00000380708
  gene symbol: WRB
  hgvsc: ENST00000380708.1:c.*43C>T
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182093
  ensembl transcript: ENST00000466787
  gene symbol: WRB
  hgvsc: ENST00000466787.1:n.1144C>T
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000445363
  ensembl transcript: ENST00000541890
  gene symbol: WRB
  hgvsc: ENST00000541890.1:c.451+3702C>T
  variant of: http://identifiers.org/hgnc/12790
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2525
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8261
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2188
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3612
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1573
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11506
  bin: 3.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 7728
  bin: 4.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 9740
  bin: 3.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 3361
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5127
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4124
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22952
  bin: 9.75e1
  variant carriers: 63
genotype quality: GenotypeQuality
  all individuals: 2970
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8436
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 1
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD

21-40768912-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40768912
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 40768911
    reference: chr 21
allele count: 1
allele frequency: 8.248239000973292e-6
allele num: 121238
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000410228
  ensembl transcript: ENST00000415847
  gene symbol: WRB
  hgvsc: ENST00000415847.2:c.174+3708delC
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000327716
  ensembl transcript: ENST00000333781
  gene symbol: WRB
  hgvsc: ENST00000333781.5:c.*49delC
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182093
  ensembl transcript: ENST00000490860
  gene symbol: WRB
  hgvsc: ENST00000490860.1:n.508delC
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000445363
  ensembl transcript: ENST00000541890
  gene symbol: WRB
  hgvsc: ENST00000541890.1:c.451+3708delC
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000370084
  ensembl transcript: ENST00000380708
  gene symbol: WRB
  hgvsc: ENST00000380708.1:c.*49delC
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000381737
  ensembl transcript: ENST00000398753
  gene symbol: WRB
  hgvsc: ENST00000398753.1:c.*49delC
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182093
  ensembl transcript: ENST00000466787
  gene symbol: WRB
  hgvsc: ENST00000466787.1:n.1150delC
  variant of: http://identifiers.org/hgnc/12790
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3355
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5121
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9627
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2525
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4158
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8258
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7703
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11100
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2190
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2557
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2958
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4804
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 861
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: TC
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

21-40768914-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40768914
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 40768914
    reference: chr 21
allele count: 158
allele frequency: 1.303845519062551e-3
allele num: 121180
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000381737
  ensembl transcript: ENST00000398753
  gene symbol: WRB
  hgvsc: ENST00000398753.1:c.*49C>G
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000370084
  ensembl transcript: ENST00000380708
  gene symbol: WRB
  hgvsc: ENST00000380708.1:c.*49C>G
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000445363
  ensembl transcript: ENST00000541890
  gene symbol: WRB
  hgvsc: ENST00000541890.1:c.451+3708C>G
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182093
  ensembl transcript: ENST00000490860
  gene symbol: WRB
  hgvsc: ENST00000490860.1:n.508C>G
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000327716
  ensembl transcript: ENST00000333781
  gene symbol: WRB
  hgvsc: ENST00000333781.5:c.*49C>G
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000410228
  ensembl transcript: ENST00000415847
  gene symbol: WRB
  hgvsc: ENST00000415847.2:c.174+3708C>G
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182093
  ensembl transcript: ENST00000466787
  gene symbol: WRB
  hgvsc: ENST00000466787.1:n.1150C>G
  variant of: http://identifiers.org/hgnc/12790
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9569
  bin: 3.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 8286
  bin: 2.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7690
  bin: 4.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 4491
  bin: 2.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3354
  bin: 5.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 2522
  bin: 9.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 10815
  bin: 3.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2183
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5120
  bin: 4.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4112
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4785
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5009
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 872
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ

http://identifiers.org/exac.variant/21-40777768-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40777768
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 40777768
    reference: chr 21
allele count: 1
allele frequency: 2.999580058791769e-5
allele num: 33338
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000445363
  ensembl transcript: ENST00000541890
  gene symbol: WRB
  hgvsc: ENST00000541890.1:c.452-720C>A
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000410228
  ensembl transcript: ENST00000415847
  gene symbol: WRB
  hgvsc: ENST00000415847.2:c.175-72C>A
  variant of: http://identifiers.org/hgnc/12790
canonical: false
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11641
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26053
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2296
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15905
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2131
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1842
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 826
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4121
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12392
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1640
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3494
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2890
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20336
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4327
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 800
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5018
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 2154
  num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

21-40777788-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40777788
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 40777788
    reference: chr 21
allele count: 1
allele frequency: 2.507396820620831e-5
allele num: 39882
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000410228
  ensembl transcript: ENST00000415847
  gene symbol: WRB
  hgvsc: ENST00000415847.2:c.175-52C>T
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000445363
  ensembl transcript: ENST00000541890
  gene symbol: WRB
  hgvsc: ENST00000541890.1:c.452-700C>T
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000351008
  ensembl transcript: ENST00000358268
  gene symbol: LCA5L
  hgvsc: ENST00000358268.2:c.*20G>A
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000288350
  ensembl transcript: ENST00000288350
  gene symbol: LCA5L
  hgvsc: ENST00000288350.3:c.*20G>A
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000370046
  ensembl transcript: ENST00000380671
  gene symbol: LCA5L
  hgvsc: ENST00000380671.2:c.*20G>A
  variant of: http://identifiers.org/hgnc/1255
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9245
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8223
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9881
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29307
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3909
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27320
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1187
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 875
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1426
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8997
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1837
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7532
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: BaseQRankSum

21-40777793-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40777793
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 40777793
    reference: chr 21
allele count: 8
allele frequency: 1.794365691727974e-4
allele num: 44584
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000410228
  ensembl transcript: ENST00000415847
  gene symbol: WRB
  hgvsc: ENST00000415847.2:c.175-47G>A
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000351008
  ensembl transcript: ENST00000358268
  gene symbol: LCA5L
  hgvsc: ENST00000358268.2:c.*15C>T
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000370046
  ensembl transcript: ENST00000380671
  gene symbol: LCA5L
  hgvsc: ENST00000380671.2:c.*15C>T
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000288350
  ensembl transcript: ENST00000288350
  gene symbol: LCA5L
  hgvsc: ENST00000288350.3:c.*15C>T
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000445363
  ensembl transcript: ENST00000541890
  gene symbol: WRB
  hgvsc: ENST00000541890.1:c.452-695G>A
  variant of: http://identifiers.org/hgnc/12790
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8284
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11629
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7957
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28733
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1603
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10678
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1057
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7719
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3251
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 979
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 5.75e1
  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: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

21-40777794-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40777794
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 40777794
    reference: chr 21
allele count: 47
allele frequency: 1.023073574227253e-3
allele num: 45940
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000445363
  ensembl transcript: ENST00000541890
  gene symbol: WRB
  hgvsc: ENST00000541890.1:c.452-694G>A
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000410228
  ensembl transcript: ENST00000415847
  gene symbol: WRB
  hgvsc: ENST00000415847.2:c.175-46G>A
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000288350
  ensembl transcript: ENST00000288350
  gene symbol: LCA5L
  hgvsc: ENST00000288350.3:c.*14C>T
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000370046
  ensembl transcript: ENST00000380671
  gene symbol: LCA5L
  hgvsc: ENST00000380671.2:c.*14C>T
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000351008
  ensembl transcript: ENST00000358268
  gene symbol: LCA5L
  hgvsc: ENST00000358268.2:c.*14C>T
  variant of: http://identifiers.org/hgnc/1255
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7634
  bin: 1.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 1.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 28465
  bin: 7.5e0
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7952
  bin: 2.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12494
  bin: 2.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3111
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 996
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 81
  bin: 9.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 715
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 292
  bin: 9.75e1
  variant carriers: 50
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 266
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genotype quality: GenotypeQuality
  all individuals: 922
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genotype quality: GenotypeQuality
  all individuals: 7404
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 457
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3158
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 27056
  bin: 2.25e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

http://identifiers.org/exac.variant/21-40777806-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40777806
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 40777806
    reference: chr 21
allele count: 1
allele frequency: 1.406944678935224e-5
allele num: 71076
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000445363
  ensembl transcript: ENST00000541890
  gene symbol: WRB
  hgvsc: ENST00000541890.1:c.452-682A>C
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000410228
  ensembl transcript: ENST00000415847
  gene symbol: WRB
  hgvsc: ENST00000415847.2:c.175-34A>C
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000370046
  ensembl transcript: ENST00000380671
  gene symbol: LCA5L
  hgvsc: ENST00000380671.2:c.*2T>G
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000351008
  ensembl transcript: ENST00000358268
  gene symbol: LCA5L
  hgvsc: ENST00000358268.2:c.*2T>G
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000288350
  ensembl transcript: ENST00000288350
  gene symbol: LCA5L
  hgvsc: ENST00000288350.3:c.*2T>G
  variant of: http://identifiers.org/hgnc/1255
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3681
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2866
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27489
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3028
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21342
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26148
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2302
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1457
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3005
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21118
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1550
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum

21-40777806-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40777806
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 40777806
    reference: chr 21
allele count: 2
allele frequency: 2.813889357870449e-5
allele num: 71076
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000445363
  ensembl transcript: ENST00000541890
  gene symbol: WRB
  hgvsc: ENST00000541890.1:c.452-682A>G
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000410228
  ensembl transcript: ENST00000415847
  gene symbol: WRB
  hgvsc: ENST00000415847.2:c.175-34A>G
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000370046
  ensembl transcript: ENST00000380671
  gene symbol: LCA5L
  hgvsc: ENST00000380671.2:c.*2T>C
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000288350
  ensembl transcript: ENST00000288350
  gene symbol: LCA5L
  hgvsc: ENST00000288350.3:c.*2T>C
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000351008
  ensembl transcript: ENST00000358268
  gene symbol: LCA5L
  hgvsc: ENST00000358268.2:c.*2T>C
  variant of: http://identifiers.org/hgnc/1255
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27489
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3028
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21342
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2866
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3681
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21118
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26148
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3005
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1550
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: European (Finnish)
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

21-40777814-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40777814
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 40777814
    reference: chr 21
allele count: 1
allele frequency: 1.015042936316206e-5
allele num: 98518
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000410228
  ensembl transcript: ENST00000415847
  gene symbol: WRB
  hgvsc: ENST00000415847.2:c.175-26A>G
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000288350
  ensembl transcript: ENST00000288350
  gene symbol: LCA5L
  hgvsc: ENST00000288350.3:c.2007T>C
  hgvsp: ENST00000288350.3:c.2007T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000445363
  ensembl transcript: ENST00000541890
  gene symbol: WRB
  hgvsc: ENST00000541890.1:c.452-674A>G
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000351008
  ensembl transcript: ENST00000358268
  gene symbol: LCA5L
  hgvsc: ENST00000358268.2:c.2007T>C
  hgvsp: ENST00000358268.2:c.2007T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000370046
  ensembl transcript: ENST00000380671
  gene symbol: LCA5L
  hgvsc: ENST00000380671.2:c.2007T>C
  hgvsp: ENST00000380671.2:c.2007T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1255
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41444
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9861
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4364
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4132
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1150
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 722
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9921
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39873
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ile669Ile
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: African
population: East Asian
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/21-40777815-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40777815
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 40777815
    reference: chr 21
allele count: 2
allele frequency: 1.98145359435682e-5
allele num: 100936
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000370046
  ensembl transcript: ENST00000380671
  gene symbol: LCA5L
  hgvsc: ENST00000380671.2:c.2006T>G
  hgvsp: ENSP00000370046.2:p.Ile669Ser
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000445363
  ensembl transcript: ENST00000541890
  gene symbol: WRB
  hgvsc: ENST00000541890.1:c.452-673A>C
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000351008
  ensembl transcript: ENST00000358268
  gene symbol: LCA5L
  hgvsc: ENST00000358268.2:c.2006T>G
  hgvsp: ENSP00000351008.2:p.Ile669Ser
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000410228
  ensembl transcript: ENST00000415847
  gene symbol: WRB
  hgvsc: ENST00000415847.2:c.175-25A>C
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000288350
  ensembl transcript: ENST00000288350
  gene symbol: LCA5L
  hgvsc: ENST00000288350.3:c.2006T>G
  hgvsp: ENSP00000288350.3:p.Ile669Ser
  variant of: http://identifiers.org/hgnc/1255
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8812
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42523
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4521
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1058
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 825
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 879
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 657
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8906
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ile669Ser
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

21-40777820-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40777820
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 40777820
    reference: chr 21
allele count: 1
allele frequency: 9.127252149467881e-6
allele num: 109562
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000410228
  ensembl transcript: ENST00000415847
  gene symbol: WRB
  hgvsc: ENST00000415847.2:c.175-20T>C
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000288350
  ensembl transcript: ENST00000288350
  gene symbol: LCA5L
  hgvsc: ENST00000288350.3:c.2001A>G
  hgvsp: ENST00000288350.3:c.2001A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000445363
  ensembl transcript: ENST00000541890
  gene symbol: WRB
  hgvsc: ENST00000541890.1:c.452-668T>C
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000351008
  ensembl transcript: ENST00000358268
  gene symbol: LCA5L
  hgvsc: ENST00000358268.2:c.2001A>G
  hgvsp: ENST00000358268.2:c.2001A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000370046
  ensembl transcript: ENST00000380671
  gene symbol: LCA5L
  hgvsc: ENST00000380671.2:c.2001A>G
  hgvsp: ENST00000380671.2:c.2001A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1255
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4862
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46571
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5090
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4870
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4939
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 823
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45241
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1003
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Lys667Lys
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD
site quality: ClippingRankSum

21-40777824-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40777824
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 40777824
    reference: chr 21
allele count: 1
allele frequency: 8.815854432611609e-6
allele num: 113432
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000445363
  ensembl transcript: ENST00000541890
  gene symbol: WRB
  hgvsc: ENST00000541890.1:c.452-664C>T
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000370046
  ensembl transcript: ENST00000380671
  gene symbol: LCA5L
  hgvsc: ENST00000380671.2:c.1997G>A
  hgvsp: ENSP00000370046.2:p.Arg666Lys
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000410228
  ensembl transcript: ENST00000415847
  gene symbol: WRB
  hgvsc: ENST00000415847.2:c.175-16C>T
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000351008
  ensembl transcript: ENST00000358268
  gene symbol: LCA5L
  hgvsc: ENST00000358268.2:c.1997G>A
  hgvsp: ENSP00000351008.2:p.Arg666Lys
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000288350
  ensembl transcript: ENST00000288350
  gene symbol: LCA5L
  hgvsc: ENST00000288350.3:c.1997G>A
  hgvsp: ENSP00000288350.3:p.Arg666Lys
  variant of: http://identifiers.org/hgnc/1255
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48278
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5475
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1781
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3112
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5115
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47154
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 955
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg666Lys
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

21-40777825-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40777825
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 40777825
    reference: chr 21
allele count: 1
allele frequency: 8.75196919306844e-6
allele num: 114260
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000351008
  ensembl transcript: ENST00000358268
  gene symbol: LCA5L
  hgvsc: ENST00000358268.2:c.1996A>C
  hgvsp: ENST00000358268.2:c.1996A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000445363
  ensembl transcript: ENST00000541890
  gene symbol: WRB
  hgvsc: ENST00000541890.1:c.452-663T>G
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000410228
  ensembl transcript: ENST00000415847
  gene symbol: WRB
  hgvsc: ENST00000415847.2:c.175-15T>G
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000288350
  ensembl transcript: ENST00000288350
  gene symbol: LCA5L
  hgvsc: ENST00000288350.3:c.1996A>C
  hgvsp: ENST00000288350.3:c.1996A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000370046
  ensembl transcript: ENST00000380671
  gene symbol: LCA5L
  hgvsc: ENST00000380671.2:c.1996A>C
  hgvsp: ENST00000380671.2:c.1996A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1255
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48656
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2757
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5575
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1782
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5220
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 665
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1069
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg666Arg
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

21-40777825-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40777825
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 40777825
    reference: chr 21
allele count: 2
allele frequency: 1.750393838613688e-5
allele num: 114260
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000370046
  ensembl transcript: ENST00000380671
  gene symbol: LCA5L
  hgvsc: ENST00000380671.2:c.1996A>G
  hgvsp: ENSP00000370046.2:p.Arg666Gly
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000410228
  ensembl transcript: ENST00000415847
  gene symbol: WRB
  hgvsc: ENST00000415847.2:c.175-15T>C
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000351008
  ensembl transcript: ENST00000358268
  gene symbol: LCA5L
  hgvsc: ENST00000358268.2:c.1996A>G
  hgvsp: ENSP00000351008.2:p.Arg666Gly
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000288350
  ensembl transcript: ENST00000288350
  gene symbol: LCA5L
  hgvsc: ENST00000288350.3:c.1996A>G
  hgvsp: ENSP00000288350.3:p.Arg666Gly
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000445363
  ensembl transcript: ENST00000541890
  gene symbol: WRB
  hgvsc: ENST00000541890.1:c.452-663T>C
  variant of: http://identifiers.org/hgnc/12790
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48656
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5575
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1782
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2757
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1069
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 665
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5220
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2800
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg666Gly
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

21-40777828-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40777828
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 40777828
    reference: chr 21
allele count: 2
allele frequency: 1.721822376803609e-5
allele num: 116156
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000351008
  ensembl transcript: ENST00000358268
  gene symbol: LCA5L
  hgvsc: ENST00000358268.2:c.1993A>T
  hgvsp: ENSP00000351008.2:p.Lys665Ter
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000410228
  ensembl transcript: ENST00000415847
  gene symbol: WRB
  hgvsc: ENST00000415847.2:c.175-12T>A
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000288350
  ensembl transcript: ENST00000288350
  gene symbol: LCA5L
  hgvsc: ENST00000288350.3:c.1993A>T
  hgvsp: ENSP00000288350.3:p.Lys665Ter
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000370046
  ensembl transcript: ENST00000380671
  gene symbol: LCA5L
  hgvsc: ENST00000380671.2:c.1993A>T
  hgvsp: ENSP00000370046.2:p.Lys665Ter
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000445363
  ensembl transcript: ENST00000541890
  gene symbol: WRB
  hgvsc: ENST00000541890.1:c.452-660T>A
  variant of: http://identifiers.org/hgnc/12790
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1843
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49568
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2010
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5721
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5375
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1088
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1005
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2035
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48766
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Lys665Ter
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: QD

21-40777830-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40777830
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 40777830
    reference: chr 21
allele count: 2
allele frequency: 1.708729901064539e-5
allele num: 117046
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000370046
  ensembl transcript: ENST00000380671
  gene symbol: LCA5L
  hgvsc: ENST00000380671.2:c.1991G>A
  hgvsp: ENSP00000370046.2:p.Gly664Glu
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000410228
  ensembl transcript: ENST00000415847
  gene symbol: WRB
  hgvsc: ENST00000415847.2:c.175-10C>T
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000351008
  ensembl transcript: ENST00000358268
  gene symbol: LCA5L
  hgvsc: ENST00000358268.2:c.1991G>A
  hgvsp: ENSP00000351008.2:p.Gly664Glu
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000445363
  ensembl transcript: ENST00000541890
  gene symbol: WRB
  hgvsc: ENST00000541890.1:c.452-658C>T
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000288350
  ensembl transcript: ENST00000288350
  gene symbol: LCA5L
  hgvsc: ENST00000288350.3:c.1991G>A
  hgvsp: ENSP00000288350.3:p.Gly664Glu
  variant of: http://identifiers.org/hgnc/1255
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49970
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5817
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49205
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1679
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1007
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1094
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gly664Glu
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ

21-40777836-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40777836
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 40777836
    reference: chr 21
allele count: 25
allele frequency: 2.112414235982019e-4
allele num: 118348
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000410228
  ensembl transcript: ENST00000415847
  gene symbol: WRB
  hgvsc: ENST00000415847.2:c.175-4G>A
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000351008
  ensembl transcript: ENST00000358268
  gene symbol: LCA5L
  hgvsc: ENST00000358268.2:c.1985C>T
  hgvsp: ENSP00000351008.2:p.Thr662Ile
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000370046
  ensembl transcript: ENST00000380671
  gene symbol: LCA5L
  hgvsc: ENST00000380671.2:c.1985C>T
  hgvsp: ENSP00000370046.2:p.Thr662Ile
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000288350
  ensembl transcript: ENST00000288350
  gene symbol: LCA5L
  hgvsc: ENST00000288350.3:c.1985C>T
  hgvsp: ENSP00000288350.3:p.Thr662Ile
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000445363
  ensembl transcript: ENST00000541890
  gene symbol: WRB
  hgvsc: ENST00000541890.1:c.452-652G>A
  variant of: http://identifiers.org/hgnc/12790
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50431
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5966
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1277
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49782
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5542
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Thr662Ile
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

21-40777838-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40777838
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 40777838
    reference: chr 21
allele count: 2
allele frequency: 1.686084742619164e-5
allele num: 118618
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000288350
  ensembl transcript: ENST00000288350
  gene symbol: LCA5L
  hgvsc: ENST00000288350.3:c.1983T>A
  hgvsp: ENST00000288350.3:c.1983T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000351008
  ensembl transcript: ENST00000358268
  gene symbol: LCA5L
  hgvsc: ENST00000358268.2:c.1983T>A
  hgvsp: ENST00000358268.2:c.1983T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000410228
  ensembl transcript: ENST00000415847
  gene symbol: WRB
  hgvsc: ENST00000415847.2:c.175-2A>T
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000370046
  ensembl transcript: ENST00000380671
  gene symbol: LCA5L
  hgvsc: ENST00000380671.2:c.1983T>A
  hgvsp: ENST00000380671.2:c.1983T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000445363
  ensembl transcript: ENST00000541890
  gene symbol: WRB
  hgvsc: ENST00000541890.1:c.452-650A>T
  variant of: http://identifiers.org/hgnc/12790
canonical: false
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1957
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5998
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50532
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1197
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5557
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49900
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.75e1
  variant carriers: 0
hgvs: c.175-2A>T
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: African
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff

21-40777844-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40777844
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 40777844
    reference: chr 21
allele count: 1
allele frequency: 8.394050297149381e-6
allele num: 119132
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000410228
  ensembl transcript: ENST00000415847
  gene symbol: WRB
  hgvsc: ENST00000415847.2:c.179C>T
  hgvsp: ENST00000415847.2:c.179C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000370046
  ensembl transcript: ENST00000380671
  gene symbol: LCA5L
  hgvsc: ENST00000380671.2:c.1977G>A
  hgvsp: ENST00000380671.2:c.1977G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000445363
  ensembl transcript: ENST00000541890
  gene symbol: WRB
  hgvsc: ENST00000541890.1:c.452-644C>T
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000288350
  ensembl transcript: ENST00000288350
  gene symbol: LCA5L
  hgvsc: ENST00000288350.3:c.1977G>A
  hgvsp: ENST00000288350.3:c.1977G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000351008
  ensembl transcript: ENST00000358268
  gene symbol: LCA5L
  hgvsc: ENST00000358268.2:c.1977G>A
  hgvsp: ENST00000358268.2:c.1977G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1255
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50653
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6082
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1983
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1050
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1028
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser659Ser
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff

21-40777845-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40777845
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 40777845
    reference: chr 21
allele count: 3
allele frequency: 2.514163118903154e-5
allele num: 119324
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000288350
  ensembl transcript: ENST00000288350
  gene symbol: LCA5L
  hgvsc: ENST00000288350.3:c.1976C>T
  hgvsp: ENSP00000288350.3:p.Ser659Leu
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000351008
  ensembl transcript: ENST00000358268
  gene symbol: LCA5L
  hgvsc: ENST00000358268.2:c.1976C>T
  hgvsp: ENSP00000351008.2:p.Ser659Leu
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000410228
  ensembl transcript: ENST00000415847
  gene symbol: WRB
  hgvsc: ENST00000415847.2:c.180G>A
  hgvsp: ENSP00000410228.2:p.Asp61Asn
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000370046
  ensembl transcript: ENST00000380671
  gene symbol: LCA5L
  hgvsc: ENST00000380671.2:c.1976C>T
  hgvsp: ENSP00000370046.2:p.Ser659Leu
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000445363
  ensembl transcript: ENST00000541890
  gene symbol: WRB
  hgvsc: ENST00000541890.1:c.452-643G>A
  variant of: http://identifiers.org/hgnc/12790
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50712
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6098
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1997
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5604
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1060
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50144
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 965
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser659Leu
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

21-40777857-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40777857
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 40777857
    reference: chr 21
allele count: 2
allele frequency: 1.66591700401486e-5
allele num: 120054
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000410228
  ensembl transcript: ENST00000415847
  gene symbol: WRB
  hgvsc: ENST00000415847.2:c.192G>T
  hgvsp: ENSP00000410228.2:p.Glu65Ter
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000445363
  ensembl transcript: ENST00000541890
  gene symbol: WRB
  hgvsc: ENST00000541890.1:c.452-631G>T
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000288350
  ensembl transcript: ENST00000288350
  gene symbol: LCA5L
  hgvsc: ENST00000288350.3:c.1964C>A
  hgvsp: ENSP00000288350.3:p.Ser655Tyr
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000370046
  ensembl transcript: ENST00000380671
  gene symbol: LCA5L
  hgvsc: ENST00000380671.2:c.1964C>A
  hgvsp: ENSP00000370046.2:p.Ser655Tyr
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000351008
  ensembl transcript: ENST00000358268
  gene symbol: LCA5L
  hgvsc: ENST00000358268.2:c.1964C>A
  hgvsp: ENSP00000351008.2:p.Ser655Tyr
  variant of: http://identifiers.org/hgnc/1255
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50923
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2038
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6203
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5647
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50435
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Glu65Ter
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS

21-40777864-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40777864
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 40777864
    reference: chr 21
allele count: 1
allele frequency: 8.308960382876895e-6
allele num: 120352
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000445363
  ensembl transcript: ENST00000541890
  gene symbol: WRB
  hgvsc: ENST00000541890.1:c.452-624C>T
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000288350
  ensembl transcript: ENST00000288350
  gene symbol: LCA5L
  hgvsc: ENST00000288350.3:c.1957G>A
  hgvsp: ENSP00000288350.3:p.Val653Ile
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000370046
  ensembl transcript: ENST00000380671
  gene symbol: LCA5L
  hgvsc: ENST00000380671.2:c.1957G>A
  hgvsp: ENSP00000370046.2:p.Val653Ile
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000351008
  ensembl transcript: ENST00000358268
  gene symbol: LCA5L
  hgvsc: ENST00000358268.2:c.1957G>A
  hgvsp: ENSP00000351008.2:p.Val653Ile
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000410228
  ensembl transcript: ENST00000415847
  gene symbol: WRB
  hgvsc: ENST00000415847.2:c.199C>T
  hgvsp: ENSP00000410228.2:p.Thr67Ile
  variant of: http://identifiers.org/hgnc/12790
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2052
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51021
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6248
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1072
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50567
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val653Ile
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

21-40777866-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40777866
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 40777866
    reference: chr 21
allele count: 1
allele frequency: 8.304130474498016e-6
allele num: 120422
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000370046
  ensembl transcript: ENST00000380671
  gene symbol: LCA5L
  hgvsc: ENST00000380671.2:c.1955T>C
  hgvsp: ENSP00000370046.2:p.Val652Ala
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000445363
  ensembl transcript: ENST00000541890
  gene symbol: WRB
  hgvsc: ENST00000541890.1:c.452-622A>G
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000351008
  ensembl transcript: ENST00000358268
  gene symbol: LCA5L
  hgvsc: ENST00000358268.2:c.1955T>C
  hgvsp: ENSP00000351008.2:p.Val652Ala
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000288350
  ensembl transcript: ENST00000288350
  gene symbol: LCA5L
  hgvsc: ENST00000288350.3:c.1955T>C
  hgvsp: ENSP00000288350.3:p.Val652Ala
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000410228
  ensembl transcript: ENST00000415847
  gene symbol: WRB
  hgvsc: ENST00000415847.2:c.201A>G
  hgvsp: ENSP00000410228.2:p.Thr68Ala
  variant of: http://identifiers.org/hgnc/12790
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51038
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6259
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50594
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1075
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val652Ala
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ClippingRankSum

21-40777868-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40777868
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 40777868
    reference: chr 21
allele count: 1
allele frequency: 8.299030673217368e-6
allele num: 120496
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000351008
  ensembl transcript: ENST00000358268
  gene symbol: LCA5L
  hgvsc: ENST00000358268.2:c.1953T>C
  hgvsp: ENST00000358268.2:c.1953T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000288350
  ensembl transcript: ENST00000288350
  gene symbol: LCA5L
  hgvsc: ENST00000288350.3:c.1953T>C
  hgvsp: ENST00000288350.3:c.1953T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000370046
  ensembl transcript: ENST00000380671
  gene symbol: LCA5L
  hgvsc: ENST00000380671.2:c.1953T>C
  hgvsp: ENST00000380671.2:c.1953T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000445363
  ensembl transcript: ENST00000541890
  gene symbol: WRB
  hgvsc: ENST00000541890.1:c.452-620A>G
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000410228
  ensembl transcript: ENST00000415847
  gene symbol: WRB
  hgvsc: ENST00000415847.2:c.203A>G
  hgvsp: ENST00000415847.2:c.203A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12790
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6272
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51064
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2066
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1078
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5695
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1177
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50602
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Thr651Thr
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

21-40777869-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40777869
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 40777869
    reference: chr 21
allele count: 1
allele frequency: 8.296827293243064e-6
allele num: 120528
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000351008
  ensembl transcript: ENST00000358268
  gene symbol: LCA5L
  hgvsc: ENST00000358268.2:c.1952C>G
  hgvsp: ENSP00000351008.2:p.Thr651Ser
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000370046
  ensembl transcript: ENST00000380671
  gene symbol: LCA5L
  hgvsc: ENST00000380671.2:c.1952C>G
  hgvsp: ENSP00000370046.2:p.Thr651Ser
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000445363
  ensembl transcript: ENST00000541890
  gene symbol: WRB
  hgvsc: ENST00000541890.1:c.452-619G>C
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000288350
  ensembl transcript: ENST00000288350
  gene symbol: LCA5L
  hgvsc: ENST00000288350.3:c.1952C>G
  hgvsp: ENSP00000288350.3:p.Thr651Ser
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000410228
  ensembl transcript: ENST00000415847
  gene symbol: WRB
  hgvsc: ENST00000415847.2:c.204G>C
  hgvsp: ENSP00000410228.2:p.Val69Leu
  variant of: http://identifiers.org/hgnc/12790
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2068
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51075
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6279
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5698
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1075
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50621
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Thr651Ser
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: ClippingRankSum

21-40777876-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40777876
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 40777876
    reference: chr 21
allele count: 1
allele frequency: 8.284866862189524e-6
allele num: 120702
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000410228
  ensembl transcript: ENST00000415847
  gene symbol: WRB
  hgvsc: ENST00000415847.2:c.211T>C
  hgvsp: ENSP00000410228.2:p.Leu71Ser
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000288350
  ensembl transcript: ENST00000288350
  gene symbol: LCA5L
  hgvsc: ENST00000288350.3:c.1945A>G
  hgvsp: ENSP00000288350.3:p.Lys649Glu
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000445363
  ensembl transcript: ENST00000541890
  gene symbol: WRB
  hgvsc: ENST00000541890.1:c.452-612T>C
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000370046
  ensembl transcript: ENST00000380671
  gene symbol: LCA5L
  hgvsc: ENST00000380671.2:c.1945A>G
  hgvsp: ENSP00000370046.2:p.Lys649Glu
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000351008
  ensembl transcript: ENST00000358268
  gene symbol: LCA5L
  hgvsc: ENST00000358268.2:c.1945A>G
  hgvsp: ENSP00000351008.2:p.Lys649Glu
  variant of: http://identifiers.org/hgnc/1255
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6298
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51085
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1078
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50587
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1183
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Lys649Glu
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD

21-40777879-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40777879
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 40777879
    reference: chr 21
allele count: 2
allele frequency: 1.655163281857755e-5
allele num: 120834
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000351008
  ensembl transcript: ENST00000358268
  gene symbol: LCA5L
  hgvsc: ENST00000358268.2:c.1942T>C
  hgvsp: ENSP00000351008.2:p.Ser648Pro
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000410228
  ensembl transcript: ENST00000415847
  gene symbol: WRB
  hgvsc: ENST00000415847.2:c.214A>G
  hgvsp: ENSP00000410228.2:p.Glu72Gly
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000445363
  ensembl transcript: ENST00000541890
  gene symbol: WRB
  hgvsc: ENST00000541890.1:c.452-609A>G
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000370046
  ensembl transcript: ENST00000380671
  gene symbol: LCA5L
  hgvsc: ENST00000380671.2:c.1942T>C
  hgvsp: ENSP00000370046.2:p.Ser648Pro
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000288350
  ensembl transcript: ENST00000288350
  gene symbol: LCA5L
  hgvsc: ENST00000288350.3:c.1942T>C
  hgvsp: ENSP00000288350.3:p.Ser648Pro
  variant of: http://identifiers.org/hgnc/1255
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6342
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2088
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51037
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50537
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5683
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1077
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser648Pro
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

21-40777885-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40777885
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 40777885
    reference: chr 21
allele count: 5
allele frequency: 4.13537565752473e-5
allele num: 120908
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000351008
  ensembl transcript: ENST00000358268
  gene symbol: LCA5L
  hgvsc: ENST00000358268.2:c.1936G>A
  hgvsp: ENSP00000351008.2:p.Gly646Arg
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000370046
  ensembl transcript: ENST00000380671
  gene symbol: LCA5L
  hgvsc: ENST00000380671.2:c.1936G>A
  hgvsp: ENSP00000370046.2:p.Gly646Arg
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000410228
  ensembl transcript: ENST00000415847
  gene symbol: WRB
  hgvsc: ENST00000415847.2:c.220C>T
  hgvsp: ENSP00000410228.2:p.Pro74Leu
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000445363
  ensembl transcript: ENST00000541890
  gene symbol: WRB
  hgvsc: ENST00000541890.1:c.452-603C>T
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000288350
  ensembl transcript: ENST00000288350
  gene symbol: LCA5L
  hgvsc: ENST00000288350.3:c.1936G>A
  hgvsp: ENSP00000288350.3:p.Gly646Arg
  variant of: http://identifiers.org/hgnc/1255
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2103
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6398
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50988
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1078
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1190
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50429
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly646Arg
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Other
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ

21-40777886-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40777886
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 40777886
    reference: chr 21
allele count: 3
allele frequency: 2.479748718796495e-5
allele num: 120980
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000351008
  ensembl transcript: ENST00000358268
  gene symbol: LCA5L
  hgvsc: ENST00000358268.2:c.1935C>T
  hgvsp: ENST00000358268.2:c.1935C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000445363
  ensembl transcript: ENST00000541890
  gene symbol: WRB
  hgvsc: ENST00000541890.1:c.452-602G>A
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000288350
  ensembl transcript: ENST00000288350
  gene symbol: LCA5L
  hgvsc: ENST00000288350.3:c.1935C>T
  hgvsp: ENST00000288350.3:c.1935C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000370046
  ensembl transcript: ENST00000380671
  gene symbol: LCA5L
  hgvsc: ENST00000380671.2:c.1935C>T
  hgvsp: ENST00000380671.2:c.1935C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000410228
  ensembl transcript: ENST00000415847
  gene symbol: WRB
  hgvsc: ENST00000415847.2:c.221G>A
  hgvsp: ENST00000415847.2:c.221G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12790
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51002
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2120
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6415
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5700
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1078
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50522
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Phe645Phe
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

21-40777896-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40777896
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 40777896
    reference: chr 21
allele count: 1
allele frequency: 8.261322141995606e-6
allele num: 121046
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000410228
  ensembl transcript: ENST00000415847
  gene symbol: WRB
  hgvsc: ENST00000415847.2:c.231C>T
  hgvsp: ENST00000415847.2:c.231C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000288350
  ensembl transcript: ENST00000288350
  gene symbol: LCA5L
  hgvsc: ENST00000288350.3:c.1925G>A
  hgvsp: ENSP00000288350.3:p.Ser642Asn
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000370046
  ensembl transcript: ENST00000380671
  gene symbol: LCA5L
  hgvsc: ENST00000380671.2:c.1925G>A
  hgvsp: ENSP00000370046.2:p.Ser642Asn
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000445363
  ensembl transcript: ENST00000541890
  gene symbol: WRB
  hgvsc: ENST00000541890.1:c.452-592C>T
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000351008
  ensembl transcript: ENST00000358268
  gene symbol: LCA5L
  hgvsc: ENST00000358268.2:c.1925G>A
  hgvsp: ENSP00000351008.2:p.Ser642Asn
  variant of: http://identifiers.org/hgnc/1255
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6406
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50572
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2195
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1065
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1178
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50207
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser642Asn
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

21-40777900-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40777900
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 40777900
    reference: chr 21
allele count: 3509
allele frequency: 3.024165747380033e-2
allele num: 116032
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000410228
  ensembl transcript: ENST00000415847
  gene symbol: WRB
  hgvsc: ENST00000415847.2:c.235T>G
  hgvsp: ENSP00000410228.2:p.Val79Gly
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000288350
  ensembl transcript: ENST00000288350
  gene symbol: LCA5L
  hgvsc: ENST00000288350.3:c.1921A>C
  hgvsp: ENSP00000288350.3:p.Thr641Pro
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000445363
  ensembl transcript: ENST00000541890
  gene symbol: WRB
  hgvsc: ENST00000541890.1:c.452-588T>G
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000370046
  ensembl transcript: ENST00000380671
  gene symbol: LCA5L
  hgvsc: ENST00000380671.2:c.1921A>C
  hgvsp: ENSP00000370046.2:p.Thr641Pro
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000351008
  ensembl transcript: ENST00000358268
  gene symbol: LCA5L
  hgvsc: ENST00000358268.2:c.1921A>C
  hgvsp: ENSP00000351008.2:p.Thr641Pro
  variant of: http://identifiers.org/hgnc/1255
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 4.75e1
  variant carriers: 74
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 3537
  bin: 9.75e1
  variant carriers: 2826
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 68
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2182
  bin: 3.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 82
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 66
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.25e1
  variant carriers: 55
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 69
genotype depth: GenotypeDepth
  all individuals: 5901
  bin: 2.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 3.75e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 46015
  bin: 2.25e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 9.25e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 2.25e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 882
  bin: 7.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 4881
  bin: 6.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 4.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 45756
  bin: 6.25e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 1.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 1.25e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 7.5e0
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 8.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 3588
  bin: 9.75e1
  variant carriers: 3273
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 4.25e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 2214
  bin: 2.5e0
  variant carriers: 11
hgvs: p.Thr641Pro
num of homozygotes: 0
population: African
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

21-40777901-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40777901
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 40777901
    reference: chr 21
allele count: 1
allele frequency: 8.256002113536541e-6
allele num: 121124
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000410228
  ensembl transcript: ENST00000415847
  gene symbol: WRB
  hgvsc: ENST00000415847.2:c.236G>T
  hgvsp: ENST00000415847.2:c.236G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000351008
  ensembl transcript: ENST00000358268
  gene symbol: LCA5L
  hgvsc: ENST00000358268.2:c.1920C>A
  hgvsp: ENST00000358268.2:c.1920C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000445363
  ensembl transcript: ENST00000541890
  gene symbol: WRB
  hgvsc: ENST00000541890.1:c.452-587G>T
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000370046
  ensembl transcript: ENST00000380671
  gene symbol: LCA5L
  hgvsc: ENST00000380671.2:c.1920C>A
  hgvsp: ENST00000380671.2:c.1920C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000288350
  ensembl transcript: ENST00000288350
  gene symbol: LCA5L
  hgvsc: ENST00000288350.3:c.1920C>A
  hgvsp: ENST00000288350.3:c.1920C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1255
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46137
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6600
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2529
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2144
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1237
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3767
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser640Ser
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS

21-40777903-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40777903
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 40777903
    reference: chr 21
allele count: 2230
allele frequency: 1.849302572437928e-2
allele num: 120586
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000288350
  ensembl transcript: ENST00000288350
  gene symbol: LCA5L
  hgvsc: ENST00000288350.3:c.1918T>C
  hgvsp: ENSP00000288350.3:p.Ser640Pro
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000370046
  ensembl transcript: ENST00000380671
  gene symbol: LCA5L
  hgvsc: ENST00000380671.2:c.1918T>C
  hgvsp: ENSP00000370046.2:p.Ser640Pro
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000445363
  ensembl transcript: ENST00000541890
  gene symbol: WRB
  hgvsc: ENST00000541890.1:c.452-585A>G
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000410228
  ensembl transcript: ENST00000415847
  gene symbol: WRB
  hgvsc: ENST00000415847.2:c.238A>G
  hgvsp: ENSP00000410228.2:p.Glu80Gly
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000351008
  ensembl transcript: ENST00000358268
  gene symbol: LCA5L
  hgvsc: ENST00000358268.2:c.1918T>C
  hgvsp: ENSP00000351008.2:p.Ser640Pro
  variant of: http://identifiers.org/hgnc/1255
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 46237
  bin: 2.25e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.25e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 6.25e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 6711
  bin: 2.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2605
  bin: 3.25e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 4.25e1
  variant carriers: 80
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.25e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.75e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 4.75e1
  variant carriers: 69
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 3.75e1
  variant carriers: 69
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 1861
  bin: 9.75e1
  variant carriers: 1533
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 3.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 8.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 3.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 4.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 7.5e0
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 3634
  bin: 9.75e1
  variant carriers: 2162
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1125
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 46956
  bin: 6.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 2.5e0
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 2.25e1
  variant carriers: 2
hgvs: p.Ser640Pro
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum

21-40777904-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40777904
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 40777904
    reference: chr 21
allele count: 1
allele frequency: 8.275679433281473e-6
allele num: 120836
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000288350
  ensembl transcript: ENST00000288350
  gene symbol: LCA5L
  hgvsc: ENST00000288350.3:c.1917C>A
  hgvsp: ENST00000288350.3:c.1917C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000410228
  ensembl transcript: ENST00000415847
  gene symbol: WRB
  hgvsc: ENST00000415847.2:c.239G>T
  hgvsp: ENSP00000410228.2:p.Glu80Asp
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000445363
  ensembl transcript: ENST00000541890
  gene symbol: WRB
  hgvsc: ENST00000541890.1:c.452-584G>T
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000351008
  ensembl transcript: ENST00000358268
  gene symbol: LCA5L
  hgvsc: ENST00000358268.2:c.1917C>A
  hgvsp: ENST00000358268.2:c.1917C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000370046
  ensembl transcript: ENST00000380671
  gene symbol: LCA5L
  hgvsc: ENST00000380671.2:c.1917C>A
  hgvsp: ENST00000380671.2:c.1917C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157578
  ensembl transcript: ENST00000495240
  gene symbol: LCA5L
  hgvsc: ENST00000495240.1:n.972C>A
  variant of: http://identifiers.org/hgnc/1255
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 46258
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6903
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2731
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3199
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1271
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1226
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Glu80Asp
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

21-40777906-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40777906
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 40777906
    reference: chr 21
allele count: 6
allele frequency: 4.967216371945162e-5
allele num: 120792
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000351008
  ensembl transcript: ENST00000358268
  gene symbol: LCA5L
  hgvsc: ENST00000358268.2:c.1915G>C
  hgvsp: ENSP00000351008.2:p.Ala639Pro
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000288350
  ensembl transcript: ENST00000288350
  gene symbol: LCA5L
  hgvsc: ENST00000288350.3:c.1915G>C
  hgvsp: ENSP00000288350.3:p.Ala639Pro
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157578
  ensembl transcript: ENST00000495240
  gene symbol: LCA5L
  hgvsc: ENST00000495240.1:n.970G>C
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000370046
  ensembl transcript: ENST00000380671
  gene symbol: LCA5L
  hgvsc: ENST00000380671.2:c.1915G>C
  hgvsp: ENSP00000370046.2:p.Ala639Pro
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000410228
  ensembl transcript: ENST00000415847
  gene symbol: WRB
  hgvsc: ENST00000415847.2:c.241C>G
  hgvsp: ENSP00000410228.2:p.Ala81Gly
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000445363
  ensembl transcript: ENST00000541890
  gene symbol: WRB
  hgvsc: ENST00000541890.1:c.452-582C>G
  variant of: http://identifiers.org/hgnc/12790
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46280
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6910
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2730
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1219
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47373
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala639Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP

21-40777908-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40777908
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 40777908
    reference: chr 21
allele count: 1
allele frequency: 8.274720728175424e-6
allele num: 120850
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000288350
  ensembl transcript: ENST00000288350
  gene symbol: LCA5L
  hgvsc: ENST00000288350.3:c.1913A>G
  hgvsp: ENSP00000288350.3:p.Gln638Arg
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: false
  consequence: stop_lost
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000410228
  ensembl transcript: ENST00000415847
  gene symbol: WRB
  hgvsc: ENST00000415847.2:c.243T>C
  hgvsp: ENSP00000410228.2:p.Ter82ArgextTer31
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000351008
  ensembl transcript: ENST00000358268
  gene symbol: LCA5L
  hgvsc: ENST00000358268.2:c.1913A>G
  hgvsp: ENSP00000351008.2:p.Gln638Arg
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000370046
  ensembl transcript: ENST00000380671
  gene symbol: LCA5L
  hgvsc: ENST00000380671.2:c.1913A>G
  hgvsp: ENSP00000370046.2:p.Gln638Arg
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000445363
  ensembl transcript: ENST00000541890
  gene symbol: WRB
  hgvsc: ENST00000541890.1:c.452-580T>C
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157578
  ensembl transcript: ENST00000495240
  gene symbol: LCA5L
  hgvsc: ENST00000495240.1:n.968A>G
  variant of: http://identifiers.org/hgnc/1255
canonical: false
consequence: stop lost
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2719
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6931
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46305
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3168
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ter82ArgextTer31
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

21-40777912-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40777912
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 40777912
    reference: chr 21
allele count: 1
allele frequency: 8.272119647938589e-6
allele num: 120888
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000445363
  ensembl transcript: ENST00000541890
  gene symbol: WRB
  hgvsc: ENST00000541890.1:c.452-576T>G
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157578
  ensembl transcript: ENST00000495240
  gene symbol: LCA5L
  hgvsc: ENST00000495240.1:n.964A>C
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000288350
  ensembl transcript: ENST00000288350
  gene symbol: LCA5L
  hgvsc: ENST00000288350.3:c.1909A>C
  hgvsp: ENSP00000288350.3:p.Ser637Arg
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000370046
  ensembl transcript: ENST00000380671
  gene symbol: LCA5L
  hgvsc: ENST00000380671.2:c.1909A>C
  hgvsp: ENSP00000370046.2:p.Ser637Arg
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000410228
  ensembl transcript: ENST00000415847
  gene symbol: WRB
  hgvsc: ENST00000415847.2:c.*2T>G
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000351008
  ensembl transcript: ENST00000358268
  gene symbol: LCA5L
  hgvsc: ENST00000358268.2:c.1909A>C
  hgvsp: ENSP00000351008.2:p.Ser637Arg
  variant of: http://identifiers.org/hgnc/1255
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6971
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2725
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46362
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5525
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser637Arg
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD

21-40777915-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40777915
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 40777915
    reference: chr 21
allele count: 1
allele frequency: 8.241033755274261e-6
allele num: 121344
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000445363
  ensembl transcript: ENST00000541890
  gene symbol: WRB
  hgvsc: ENST00000541890.1:c.452-573G>A
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157578
  ensembl transcript: ENST00000495240
  gene symbol: LCA5L
  hgvsc: ENST00000495240.1:n.961C>T
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000288350
  ensembl transcript: ENST00000288350
  gene symbol: LCA5L
  hgvsc: ENST00000288350.3:c.1906C>T
  hgvsp: ENSP00000288350.3:p.Pro636Ser
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000410228
  ensembl transcript: ENST00000415847
  gene symbol: WRB
  hgvsc: ENST00000415847.2:c.*5G>A
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000370046
  ensembl transcript: ENST00000380671
  gene symbol: LCA5L
  hgvsc: ENST00000380671.2:c.1906C>T
  hgvsp: ENSP00000370046.2:p.Pro636Ser
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000351008
  ensembl transcript: ENST00000358268
  gene symbol: LCA5L
  hgvsc: ENST00000358268.2:c.1906C>T
  hgvsp: ENSP00000351008.2:p.Pro636Ser
  variant of: http://identifiers.org/hgnc/1255
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6992
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46376
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2753
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1284
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1240
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47584
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5524
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro636Ser
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: African
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

21-40777927-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40777927
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 40777927
    reference: chr 21
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000445363
  ensembl transcript: ENST00000541890
  gene symbol: WRB
  hgvsc: ENST00000541890.1:c.452-561G>A
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000288350
  ensembl transcript: ENST00000288350
  gene symbol: LCA5L
  hgvsc: ENST00000288350.3:c.1894C>T
  hgvsp: ENSP00000288350.3:p.His632Tyr
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157578
  ensembl transcript: ENST00000495240
  gene symbol: LCA5L
  hgvsc: ENST00000495240.1:n.949C>T
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000410228
  ensembl transcript: ENST00000415847
  gene symbol: WRB
  hgvsc: ENST00000415847.2:c.*17G>A
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000351008
  ensembl transcript: ENST00000358268
  gene symbol: LCA5L
  hgvsc: ENST00000358268.2:c.1894C>T
  hgvsp: ENSP00000351008.2:p.His632Tyr
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000370046
  ensembl transcript: ENST00000380671
  gene symbol: LCA5L
  hgvsc: ENST00000380671.2:c.1894C>T
  hgvsp: ENSP00000370046.2:p.His632Tyr
  variant of: http://identifiers.org/hgnc/1255
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7020
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2770
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46425
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3344
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1249
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
hgvs: p.His632Tyr
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: European (Finnish)
population: Latino
reference allele: G
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

21-40777928-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40777928
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 40777928
    reference: chr 21
allele count: 7
allele frequency: 5.766252594813668e-5
allele num: 121396
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000288350
  ensembl transcript: ENST00000288350
  gene symbol: LCA5L
  hgvsc: ENST00000288350.3:c.1893G>A
  hgvsp: ENST00000288350.3:c.1893G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000370046
  ensembl transcript: ENST00000380671
  gene symbol: LCA5L
  hgvsc: ENST00000380671.2:c.1893G>A
  hgvsp: ENST00000380671.2:c.1893G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000410228
  ensembl transcript: ENST00000415847
  gene symbol: WRB
  hgvsc: ENST00000415847.2:c.*18C>T
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000445363
  ensembl transcript: ENST00000541890
  gene symbol: WRB
  hgvsc: ENST00000541890.1:c.452-560C>T
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000351008
  ensembl transcript: ENST00000358268
  gene symbol: LCA5L
  hgvsc: ENST00000358268.2:c.1893G>A
  hgvsp: ENST00000358268.2:c.1893G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157578
  ensembl transcript: ENST00000495240
  gene symbol: LCA5L
  hgvsc: ENST00000495240.1:n.948G>A
  variant of: http://identifiers.org/hgnc/1255
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7024
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2768
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46418
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1278
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3350
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser631Ser
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

21-40777929-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40777929
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 40777929
    reference: chr 21
allele count: 3
allele frequency: 2.47137325974133e-5
allele num: 121390
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000370046
  ensembl transcript: ENST00000380671
  gene symbol: LCA5L
  hgvsc: ENST00000380671.2:c.1892C>T
  hgvsp: ENSP00000370046.2:p.Ser631Leu
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157578
  ensembl transcript: ENST00000495240
  gene symbol: LCA5L
  hgvsc: ENST00000495240.1:n.947C>T
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000351008
  ensembl transcript: ENST00000358268
  gene symbol: LCA5L
  hgvsc: ENST00000358268.2:c.1892C>T
  hgvsp: ENSP00000351008.2:p.Ser631Leu
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000410228
  ensembl transcript: ENST00000415847
  gene symbol: WRB
  hgvsc: ENST00000415847.2:c.*19G>A
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000288350
  ensembl transcript: ENST00000288350
  gene symbol: LCA5L
  hgvsc: ENST00000288350.3:c.1892C>T
  hgvsp: ENSP00000288350.3:p.Ser631Leu
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000445363
  ensembl transcript: ENST00000541890
  gene symbol: WRB
  hgvsc: ENST00000541890.1:c.452-559G>A
  variant of: http://identifiers.org/hgnc/12790
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46424
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7029
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2772
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47694
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1251
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3347
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser631Leu
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

21-40777939-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40777939
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 40777939
    reference: chr 21
allele count: 2
allele frequency: 1.647337901950448e-5
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000410228
  ensembl transcript: ENST00000415847
  gene symbol: WRB
  hgvsc: ENST00000415847.2:c.*29T>C
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000351008
  ensembl transcript: ENST00000358268
  gene symbol: LCA5L
  hgvsc: ENST00000358268.2:c.1882A>G
  hgvsp: ENSP00000351008.2:p.Ser628Gly
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000445363
  ensembl transcript: ENST00000541890
  gene symbol: WRB
  hgvsc: ENST00000541890.1:c.452-549T>C
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157578
  ensembl transcript: ENST00000495240
  gene symbol: LCA5L
  hgvsc: ENST00000495240.1:n.937A>G
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000288350
  ensembl transcript: ENST00000288350
  gene symbol: LCA5L
  hgvsc: ENST00000288350.3:c.1882A>G
  hgvsp: ENSP00000288350.3:p.Ser628Gly
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000370046
  ensembl transcript: ENST00000380671
  gene symbol: LCA5L
  hgvsc: ENST00000380671.2:c.1882A>G
  hgvsp: ENSP00000370046.2:p.Ser628Gly
  variant of: http://identifiers.org/hgnc/1255
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7047
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2767
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46422
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3349
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1249
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 747
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1286
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser628Gly
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

21-40777952-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40777952
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 40777952
    reference: chr 21
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000410228
  ensembl transcript: ENST00000415847
  gene symbol: WRB
  hgvsc: ENST00000415847.2:c.*42C>T
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000288350
  ensembl transcript: ENST00000288350
  gene symbol: LCA5L
  hgvsc: ENST00000288350.3:c.1869G>A
  hgvsp: ENST00000288350.3:c.1869G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157578
  ensembl transcript: ENST00000495240
  gene symbol: LCA5L
  hgvsc: ENST00000495240.1:n.924G>A
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000370046
  ensembl transcript: ENST00000380671
  gene symbol: LCA5L
  hgvsc: ENST00000380671.2:c.1869G>A
  hgvsp: ENST00000380671.2:c.1869G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000445363
  ensembl transcript: ENST00000541890
  gene symbol: WRB
  hgvsc: ENST00000541890.1:c.452-536C>T
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000351008
  ensembl transcript: ENST00000358268
  gene symbol: LCA5L
  hgvsc: ENST00000358268.2:c.1869G>A
  hgvsp: ENST00000358268.2:c.1869G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1255
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7049
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2767
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46410
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5519
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1281
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Glu623Glu
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD

21-40777956-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40777956
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 40777956
    reference: chr 21
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000351008
  ensembl transcript: ENST00000358268
  gene symbol: LCA5L
  hgvsc: ENST00000358268.2:c.1865C>A
  hgvsp: ENSP00000351008.2:p.Ser622Ter
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000370046
  ensembl transcript: ENST00000380671
  gene symbol: LCA5L
  hgvsc: ENST00000380671.2:c.1865C>A
  hgvsp: ENSP00000370046.2:p.Ser622Ter
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000288350
  ensembl transcript: ENST00000288350
  gene symbol: LCA5L
  hgvsc: ENST00000288350.3:c.1865C>A
  hgvsp: ENSP00000288350.3:p.Ser622Ter
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000410228
  ensembl transcript: ENST00000415847
  gene symbol: WRB
  hgvsc: ENST00000415847.2:c.*46G>T
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000445363
  ensembl transcript: ENST00000541890
  gene symbol: WRB
  hgvsc: ENST00000541890.1:c.452-532G>T
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157578
  ensembl transcript: ENST00000495240
  gene symbol: LCA5L
  hgvsc: ENST00000495240.1:n.920C>A
  variant of: http://identifiers.org/hgnc/1255
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7048
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2767
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46404
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 747
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1281
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47712
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser622Ter
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

21-40777958-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40777958
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 40777958
    reference: chr 21
allele count: 60
allele frequency: 4.942257952916756e-4
allele num: 121402
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000445363
  ensembl transcript: ENST00000541890
  gene symbol: WRB
  hgvsc: ENST00000541890.1:c.452-530G>C
  variant of: http://identifiers.org/hgnc/12790
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000370046
  ensembl transcript: ENST00000380671
  gene symbol: LCA5L
  hgvsc: ENST00000380671.2:c.1863C>G
  hgvsp: ENST00000380671.2:c.1863C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000288350
  ensembl transcript: ENST00000288350
  gene symbol: LCA5L
  hgvsc: ENST00000288350.3:c.1863C>G
  hgvsp: ENST00000288350.3:c.1863C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157578
  ensembl transcript: ENST00000495240
  gene symbol: LCA5L
  hgvsc: ENST00000495240.1:n.918C>G
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000157578
  ensembl protein: ENSP00000351008
  ensembl transcript: ENST00000358268
  gene symbol: LCA5L
  hgvsc: ENST00000358268.2:c.1863C>G
  hgvsp: ENST00000358268.2:c.1863C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1255
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000182093
  ensembl protein: ENSP00000410228
  ensembl transcript: ENST00000415847
  gene symbol: WRB
  hgvsc: ENST00000415847.2:c.*48G>C
  variant of: http://identifiers.org/hgnc/12790
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46360
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2767
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 7039
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 9.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 3402
  bin: 9.75e1
  variant carriers: 60
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gly621Gly
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4098
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5139
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10980
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3102
bin: 7.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499745043342632e-5
allele num: 66678
num of homozygotes: 0

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -1.531e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.535e0

MQRankSum
type: SiteQuality
SIO_000300: 8.21e-1

DP
type: SiteQuality
SIO_000300: 2.652855e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.13e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 2.633e0

MQ
type: SiteQuality
SIO_000300: 5.869e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.957e0

QD
type: SiteQuality
SIO_000300: 1.219e1

GenotypeQuality
all individuals: 11215
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6046
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3104
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23301
bin: 9.75e1
variant carriers: 20

GenotypeQuality
all individuals: 52
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2557
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 18
allele frequency: 2.080443828016643e-3
allele num: 8652
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499565126113427e-5
allele num: 66686
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.615384615384615e-5
allele num: 10400
num of homozygotes: 0

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.601e0

MQRankSum
type: SiteQuality
SIO_000300: 4.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.51e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 2.656158e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.5e-1

FS
type: SiteQuality
SIO_000300: 7.42e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.98e-1

QD
type: SiteQuality
SIO_000300: 1.176e1

MQ
type: SiteQuality
SIO_000300: 5.968e1

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2560
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3114
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11332
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4106
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6084
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.423361201987156e-4
allele num: 16506
num of homozygotes: 0

Latino
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num of homozygotes: 0

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

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

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

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
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African
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.499250374812594e-5
allele num: 66700
num of homozygotes: 0

East Asian
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num of homozygotes: 0

Other
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num of homozygotes: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 1.499160470136723e-5
allele num: 66704
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Other
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African
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DP
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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QD
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ReadPosRankSum
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VQSLOD
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MQ
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FS
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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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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South Asian
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Other
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African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.498935755613514e-5
allele num: 66714
num of homozygotes: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66724
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South Asian
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Other
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African
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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East Asian
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allele num: 8654
num of homozygotes: 0

VQSLOD
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DP
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InbreedingCoeff
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QD
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ClippingRankSum
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FS
type: SiteQuality
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MQRankSum
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MQ
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Finnish)
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East Asian
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African
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Latino
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Other
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European (Non-Finnish)
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allele frequency: 1.498666187093487e-5
allele num: 66726
num of homozygotes: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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Latino
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African
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allele num: 10404
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European (Finnish)
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South Asian
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Other
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FS
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InbreedingCoeff
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VQSLOD
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DP
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ReadPosRankSum
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MQ
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MQRankSum
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BaseQRankSum
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QD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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South Asian
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Other
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East Asian
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European (Finnish)
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African
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European (Non-Finnish)
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ReadPosRankSum
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MQRankSum
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MQ
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BaseQRankSum
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QD
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FS
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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South Asian
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Latino
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Other
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European (Finnish)
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African
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European (Non-Finnish)
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allele frequency: 5.42452123355411e-3
allele num: 66734
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BaseQRankSum
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ClippingRankSum
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DP
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FS
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InbreedingCoeff
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MQRankSum
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MQ
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QD
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VQSLOD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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East Asian
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African
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European (Finnish)
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European (Non-Finnish)
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Latino
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DP
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MQ
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FS
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ReadPosRankSum
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QD
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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VQSLOD
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
all individuals: 4109
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23167
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

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

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

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 5.92e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.151e0

MQRankSum
type: SiteQuality
SIO_000300: 2.82e-1

MQ
type: SiteQuality
SIO_000300: 5.956e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.4e-3

DP
type: SiteQuality
SIO_000300: 2.668321e6

QD
type: SiteQuality
SIO_000300: 1.334e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.95e-1

GenotypeQuality
all individuals: 4109
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 328

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 0
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 107
allele frequency: 9.241665227154949e-3
allele num: 11578
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 43
allele frequency: 6.444264604501994e-4
allele num: 66726
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 24
allele frequency: 3.628666465074085e-3
allele num: 6614
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.42306760358614e-4
allele num: 16508
num of homozygotes: 0

East Asian
type: Population
allele count: 142
allele frequency: 1.640859718049457e-2
allele num: 8654
num of homozygotes: 1

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

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.92e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.82e-1

DP
type: SiteQuality
SIO_000300: 2.668321e6

QD
type: SiteQuality
SIO_000300: 1.334e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.151e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22957
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 5200
bin: 7.75e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 6
allele frequency: 6.933210076265311e-4
allele num: 8654
num of homozygotes: 0

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 4.7e-2

DP
type: SiteQuality
SIO_000300: 2.64812e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.699999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.34e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.131e0

FS
type: SiteQuality
SIO_000300: 1.273e0

MQ
type: SiteQuality
SIO_000300: 5.951e1

QD
type: SiteQuality
SIO_000300: 1.258e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.51e-1

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

GenotypeQuality
all individuals: 11669
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4852
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4133
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GenotypeQuality
all individuals: 3134
bin: 7.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66720
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -7.14e-1

FS
type: SiteQuality
SIO_000300: 4.046e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.903e1

MQRankSum
type: SiteQuality
SIO_000300: 2.08e0

QD
type: SiteQuality
SIO_000300: 1.218e1

VQSLOD
type: SiteQuality
SIO_000300: -1.174e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.141e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.6e0

DP
type: SiteQuality
SIO_000300: 2.6475e6

GenotypeQuality
all individuals: 6145
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4134
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 13
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22951
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variant carriers: 1

GenotypeQuality
all individuals: 4852
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.615384615384615e-5
allele num: 10400
num of homozygotes: 0

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

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

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.461e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.28e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.52e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.43e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.04e-1

FS
type: SiteQuality
SIO_000300: 2.94e0

DP
type: SiteQuality
SIO_000300: 2.646316e6

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 27
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variant carriers: 0

GenotypeQuality
all individuals: 13
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variant carriers: 0

GenotypeQuality
all individuals: 11489
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variant carriers: 0

GenotypeQuality
all individuals: 6140
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 3125
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variant carriers: 0

GenotypeQuality
all individuals: 5189
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22974
bin: 9.75e1
variant carriers: 49

European (Non-Finnish)
type: Population
allele count: 41
allele frequency: 6.146926536731635e-4
allele num: 66700
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.156604210039325e-4
allele num: 8646
num of homozygotes: 0

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

South Asian
type: Population
allele count: 5
allele frequency: 3.028834504482675e-4
allele num: 16508
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.72e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.59e0

MQRankSum
type: SiteQuality
SIO_000300: 3.35e-1

FS
type: SiteQuality
SIO_000300: 7.87e-1

MQ
type: SiteQuality
SIO_000300: 5.952e1

QD
type: SiteQuality
SIO_000300: 1.38e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -6.09e-1

DP
type: SiteQuality
SIO_000300: 2.646699e6

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

GenotypeQuality
all individuals: 86
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4853
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variant carriers: 0

GenotypeQuality
all individuals: 10
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variant carriers: 0

GenotypeQuality
all individuals: 13
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variant carriers: 0

GenotypeQuality
all individuals: 5193
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variant carriers: 0

GenotypeQuality
all individuals: 3123
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499160470136723e-5
allele num: 66704
num of homozygotes: 0

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

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.968e1

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

VQSLOD
type: SiteQuality
SIO_000300: -1.081e0

DP
type: SiteQuality
SIO_000300: 2.644847e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.4e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.359e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.1e0

QD
type: SiteQuality
SIO_000300: 1.406e1

GenotypeQuality
all individuals: 23
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 20
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
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GenotypeQuality
all individuals: 2571
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GenotypeQuality
all individuals: 32
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3122
bin: 7.25e1
variant carriers: 0

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

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

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

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.21153380179307e-4
allele num: 16508
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.37e0

MQRankSum
type: SiteQuality
SIO_000300: -1.18e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.360000000000001e-1

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.964e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.91e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.644485e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.39e0

GenotypeQuality
all individuals: 51
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
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GenotypeQuality
all individuals: 22941
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 6136
bin: 6.75e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499205421126803e-5
allele num: 66702
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.29e-1

FS
type: SiteQuality
SIO_000300: 6.67e0

MQRankSum
type: SiteQuality
SIO_000300: -1.003e0

MQ
type: SiteQuality
SIO_000300: 5.867e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.442e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.86e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.508e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 2.644097e6

QD
type: SiteQuality
SIO_000300: 1.317e1

GenotypeQuality
all individuals: 4852
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 55
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 90
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variant carriers: 0

GenotypeQuality
all individuals: 135
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66700
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.615384615384615e-5
allele num: 10400
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
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MQRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: 4.5e-1

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.37e0

DP
type: SiteQuality
SIO_000300: 2.642306e6

QD
type: SiteQuality
SIO_000300: 1.276e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499250374812594e-5
allele num: 66700
num of homozygotes: 0

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.3e-2

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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MQ
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.07e0

FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 2.838e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.11e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499385252046661e-5
allele num: 66694
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
allele num: 6614
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.789e0

ClippingRankSum
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ReadPosRankSum
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SIO_000300: -1.612e0

MQ
type: SiteQuality
SIO_000300: 5.953e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.45e0

MQRankSum
type: SiteQuality
SIO_000300: -5.49e-1

DP
type: SiteQuality
SIO_000300: 2.641497e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 3
allele frequency: 4.49829064955317e-5
allele num: 66692
num of homozygotes: 0

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

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

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

South Asian
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allele count: 0
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num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.88e-1

FS
type: SiteQuality
SIO_000300: 2.491e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.89e-1

DP
type: SiteQuality
SIO_000300: 2.637052e6

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.942e1

QD
type: SiteQuality
SIO_000300: 1.515e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.08e0

VQSLOD
type: SiteQuality
SIO_000300: 5.95e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 3

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

African
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allele frequency: 0.0e0
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East Asian
type: Population
allele count: 1
allele frequency: 1.157407407407407e-4
allele num: 8640
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499565126113427e-5
allele num: 66686
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.17e-1

ClippingRankSum
type: SiteQuality
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QD
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.761e-1

MQ
type: SiteQuality
SIO_000300: 5.891e1

MQRankSum
type: SiteQuality
SIO_000300: 1.14e0

DP
type: SiteQuality
SIO_000300: 2.635146e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.643042350907519e-5
allele num: 11570
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66684
num of homozygotes: 0

South Asian
type: Population
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
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SIO_000300: 3.08e-1

BaseQRankSum
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FS
type: SiteQuality
SIO_000300: 2.756e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.45e-1

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

DP
type: SiteQuality
SIO_000300: 2.634807e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.626492106276473e-5
allele num: 10388
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.500195025353296e-5
allele num: 66658
num of homozygotes: 0

South Asian
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allele count: 62
allele frequency: 3.756665050896752e-3
allele num: 16504
num of homozygotes: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 2.24e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.16e-1

FS
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
type: Population
allele count: 1
allele frequency: 8.650519031141868e-5
allele num: 11560
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66652
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African
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South Asian
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

QD
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
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FS
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 158

East Asian
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allele num: 8608
num of homozygotes: 0

South Asian
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African
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allele frequency: 1.425269645608629e-2
allele num: 10384
num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.502746675472038e-5
allele num: 66626
num of homozygotes: 0

Latino
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allele frequency: 5.195704883962591e-4
allele num: 11548
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
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Other
type: Population
allele count: 1
allele frequency: 1.103752759381898e-3
allele num: 906
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VQSLOD
type: SiteQuality
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DP
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QD
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ReadPosRankSum
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
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MQRankSum
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 5.170630816959669e-5
allele num: 19340
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African
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allele num: 3048
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Latino
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East Asian
type: Population
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Other
type: Population
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MQ
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
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BaseQRankSum
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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Other
type: Population
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allele frequency: 0.0e0
allele num: 326
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European (Non-Finnish)
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allele num: 22852
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Latino
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allele frequency: 0.0e0
allele num: 4160
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European (Finnish)
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allele frequency: 0.0e0
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African
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South Asian
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FS
type: SiteQuality
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VQSLOD
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ReadPosRankSum
type: SiteQuality
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MQRankSum
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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QD
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DP
type: SiteQuality
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BaseQRankSum
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 5572
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2772
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.049180327868852e-4
allele num: 4880
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 3812
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 2.757859900717044e-4
allele num: 25382
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1820
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 346
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.72e-2

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.488e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 6.56977e5

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -4.24e-1

QD
type: SiteQuality
SIO_000300: 1.262e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.82e-1

GenotypeQuality
all individuals: 11511
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 920
bin: 1.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 26124
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 356
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2790
num of homozygotes: 0

Latino
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allele count: 4
allele frequency: 7.886435331230284e-4
allele num: 5072
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 1892
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African
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allele count: 43
allele frequency: 1.088056680161943e-2
allele num: 3952
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 5754
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.193e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.44e-2

DP
type: SiteQuality
SIO_000300: 6.7174e5

VQSLOD
type: SiteQuality
SIO_000300: 3.78e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.75e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.55e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.44e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5356
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3928
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.526656223154278e-5
allele num: 39578
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 8784
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4130
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8760
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.1e-3

DP
type: SiteQuality
SIO_000300: 9.31689e5

ClippingRankSum
type: SiteQuality
SIO_000300: -5.1e-1

QD
type: SiteQuality
SIO_000300: 1.675e1

MQ
type: SiteQuality
SIO_000300: 5.945e1

MQRankSum
type: SiteQuality
SIO_000300: 2.84e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.25e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.16e0

GenotypeQuality
all individuals: 277
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1457
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GenotypeQuality
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3928
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 5.053312446308555e-5
allele num: 39578
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5356
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8760
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4130
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8784
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.1e-3

DP
type: SiteQuality
SIO_000300: 9.31689e5

QD
type: SiteQuality
SIO_000300: 1.675e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.945e1

MQRankSum
type: SiteQuality
SIO_000300: 2.84e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.16e0

VQSLOD
type: SiteQuality
SIO_000300: 2.25e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.1e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 790
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10710
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53968
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12626
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 736
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5916
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.336898395721925e-4
allele num: 7480
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7082
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.0e-1

DP
type: SiteQuality
SIO_000300: 1.170426e6

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.33e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.49e0

QD
type: SiteQuality
SIO_000300: 1.476e1

GenotypeQuality
all individuals: 303
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 40924
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GenotypeQuality
all individuals: 452
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variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.850481125092524e-4
allele num: 10808
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 748
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55302
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7276
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 7706
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13050
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6046
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

DP
type: SiteQuality
SIO_000300: 1.190077e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.69e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.934e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.53e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.39e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.77e-1

QD
type: SiteQuality
SIO_000300: 1.686e1

GenotypeQuality
all individuals: 941
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 505
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GenotypeQuality
all individuals: 195
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8468
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7998
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6402
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.659640853719255e-5
allele num: 60254
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 804
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14454
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.74e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.1e-1

MQ
type: SiteQuality
SIO_000300: 5.953e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.03e0

MQRankSum
type: SiteQuality
SIO_000300: 4.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.262611e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.5e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

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

Latino
type: Population
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allele frequency: 8.812125484666901e-5
allele num: 11348
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 62474
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8792
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15240
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ReadPosRankSum
type: SiteQuality
SIO_000300: -6.870000000000001e-1

FS
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.138e1

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQ
type: SiteQuality
SIO_000300: 5.895e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.06e-1

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.299429e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

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

South Asian
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Other
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East Asian
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allele frequency: 0.0e0
allele num: 8298
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6540
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 62912
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.796622097114708e-5
allele num: 11368
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.466e1

DP
type: SiteQuality
SIO_000300: 1.306427e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.63e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8852
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 62912
num of homozygotes: 0

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

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

Latino
type: Population
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allele frequency: 0.0e0
allele num: 11368
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
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allele count: 2
allele frequency: 2.410219329959026e-4
allele num: 8298
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.0364e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.563e0

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.306427e6

MQRankSum
type: SiteQuality
SIO_000300: 6.07e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.05e-1

MQ
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
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allele frequency: 0.0e0
allele num: 11440
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63890
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

African
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South Asian
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allele count: 2
allele frequency: 1.25675505843911e-4
allele num: 15914
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.932e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.89e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.62e0

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.324045e6

QD
type: SiteQuality
SIO_000300: 1.357e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 9158
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8450
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16128
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.106168851338759e-5
allele num: 64388
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.814e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.2e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.014e0

FS
type: SiteQuality
SIO_000300: 2.153e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

DP
type: SiteQuality
SIO_000300: 1.33358e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.62e-1

QD
type: SiteQuality
SIO_000300: 6.4e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.9e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 11
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 24

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 256
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9384
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8536
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 23
allele frequency: 3.535089606836556e-4
allele num: 65062
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.738223535546671e-4
allele num: 11506
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16374
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.5e-2

QD
type: SiteQuality
SIO_000300: 1.216e1

MQ
type: SiteQuality
SIO_000300: 5.972e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.334e0

VQSLOD
type: SiteQuality
SIO_000300: 4.07e0

DP
type: SiteQuality
SIO_000300: 1.346977e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.699999999999999e-2

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8552
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.067108330266225e-5
allele num: 65208
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16416
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9440
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.4e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.579e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.29e-1

FS
type: SiteQuality
SIO_000300: 2.061e0

MQ
type: SiteQuality
SIO_000300: 5.954e1

QD
type: SiteQuality
SIO_000300: 7.1e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.792e0

DP
type: SiteQuality
SIO_000300: 1.349669e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 5591
bin: 6.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
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South Asian
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allele count: 1
allele frequency: 6.077549532028686e-5
allele num: 16454
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11524
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65518
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.44e0

DP
type: SiteQuality
SIO_000300: 1.354571e6

QD
type: SiteQuality
SIO_000300: 1.521e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.213e0

MQRankSum
type: SiteQuality
SIO_000300: 1.65e0

VQSLOD
type: SiteQuality
SIO_000300: -2.407e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
all individuals: 18
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GenotypeQuality
all individuals: 1154
bin: 7.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.165501165501166e-4
allele num: 8580
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.073858114674441e-5
allele num: 16464
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9644
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.524250830716703e-5
allele num: 65606
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.955e1

QD
type: SiteQuality
SIO_000300: 1.251e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.94e0

FS
type: SiteQuality
SIO_000300: 2.867e0

MQRankSum
type: SiteQuality
SIO_000300: 1.41e-1

DP
type: SiteQuality
SIO_000300: 1.356301e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 5.2e0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
all individuals: 3
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9838
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.028375882014476e-5
allele num: 66042
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.957e1

DP
type: SiteQuality
SIO_000300: 1.362592e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.92e0

VQSLOD
type: SiteQuality
SIO_000300: -3.551e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e0

MQRankSum
type: SiteQuality
SIO_000300: 1.93e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 1.071e1

FS
type: SiteQuality
SIO_000300: 5.073e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9944
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510528382828313e-5
allele num: 66202
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.365218e6

FS
type: SiteQuality
SIO_000300: 1.622e0

VQSLOD
type: SiteQuality
SIO_000300: 8.179999999999999e-1

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 1.027e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.271e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.711e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e0

MQ
type: SiteQuality
SIO_000300: 5.986e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 9962
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.509753004408479e-5
allele num: 66236
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 16500
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East Asian
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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FS
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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DP
type: SiteQuality
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QD
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
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allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

South Asian
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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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Latino
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allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66276
num of homozygotes: 0

East Asian
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num of homozygotes: 0

FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
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ReadPosRankSum
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VQSLOD
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MQ
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10004
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66294
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East Asian
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allele num: 8640
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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allele frequency: 6.06060606060606e-5
allele num: 16500
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Other
type: Population
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
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MQ
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VQSLOD
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MQRankSum
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QD
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FS
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DP
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Latino
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Other
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European (Non-Finnish)
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allele num: 66392
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East Asian
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African
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
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BaseQRankSum
type: SiteQuality
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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
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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East Asian
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African
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allele frequency: 1.975894092076665e-4
allele num: 10122
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66460
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.548e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 5.649999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.369867e6

MQRankSum
type: SiteQuality
SIO_000300: -8.0e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.48e-1

MQ
type: SiteQuality
SIO_000300: 5.887e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.24e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.01e-1

GenotypeQuality
all individuals: 90
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5672
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 597
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 4.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.007337904486948e-5
allele num: 66504
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.861932938856015e-5
allele num: 10140
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -4.29e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.39e-1

FS
type: SiteQuality
SIO_000300: 1.952e0

DP
type: SiteQuality
SIO_000300: 1.371781e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -6.07e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.76e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.96e-1

QD
type: SiteQuality
SIO_000300: 1.137e1

MQ
type: SiteQuality
SIO_000300: 5.941e1

GenotypeQuality
all individuals: 1195
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 600
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 265
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502765087761481e-5
allele num: 66544
num of homozygotes: 0

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.13e-1

DP
type: SiteQuality
SIO_000300: 1.372434e6

QD
type: SiteQuality
SIO_000300: 1.234e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.95e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.97e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.081e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

GenotypeQuality
all individuals: 262
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5660
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66560
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.780907668231612e-5
allele num: 10224
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.38577e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.453e0

QD
type: SiteQuality
SIO_000300: 8.880000000000001e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.254e0

VQSLOD
type: SiteQuality
SIO_000300: -5.780999999999999e-1

FS
type: SiteQuality
SIO_000300: 3.544e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.55e-1

GenotypeQuality
all individuals: 128
bin: 3.25e1
variant carriers: 16

GenotypeQuality
all individuals: 473
bin: 8.25e1
variant carriers: 20

GenotypeQuality
all individuals: 1006
bin: 7.25e1
variant carriers: 17

GenotypeQuality
all individuals: 113
bin: 3.75e1
variant carriers: 16

GenotypeQuality
all individuals: 147
bin: 5.75e1
variant carriers: 18

GenotypeQuality
all individuals: 125
bin: 5.25e1
variant carriers: 12

African
type: Population
allele count: 438
allele frequency: 4.762940408873424e-2
allele num: 9196
num of homozygotes: 0

Latino
type: Population
allele count: 96
allele frequency: 8.447729672650475e-3
allele num: 11364
num of homozygotes: 0

Other
type: Population
allele count: 53
allele frequency: 6.134259259259259e-2
allele num: 864
num of homozygotes: 0

South Asian
type: Population
allele count: 71
allele frequency: 4.317684261736804e-3
allele num: 16444
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 592
allele frequency: 9.511568123393316e-2
allele num: 6224
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2057
allele frequency: 3.241514072299789e-2
allele num: 63458
num of homozygotes: 0

East Asian
type: Population
allele count: 202
allele frequency: 2.381513793916529e-2
allele num: 8482
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.83e-2

FS
type: SiteQuality
SIO_000300: 3.80636e2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.666e0

MQ
type: SiteQuality
SIO_000300: 5.89e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.441e0

DP
type: SiteQuality
SIO_000300: 2.069997e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.289999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: -2.8e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.933e2

QD
type: SiteQuality
SIO_000300: 5.95e0

GenotypeQuality
all individuals: 44
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5376
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1218
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46979
bin: 6.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50195253829979e-5
allele num: 66580
num of homozygotes: 0

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -5.87e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.41e0

VQSLOD
type: SiteQuality
SIO_000300: -5.45e-2

MQ
type: SiteQuality
SIO_000300: 5.987e1

QD
type: SiteQuality
SIO_000300: 8.279999999999999e0

DP
type: SiteQuality
SIO_000300: 1.850694e6

MQRankSum
type: SiteQuality
SIO_000300: 1.07e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 2.174e0

GenotypeQuality
all individuals: 5321
bin: 6.75e1
variant carriers: 3

GenotypeQuality
all individuals: 361
bin: 9.25e1
variant carriers: 3

GenotypeQuality
all individuals: 652
bin: 8.25e1
variant carriers: 5

GenotypeQuality
all individuals: 1192
bin: 7.25e1
variant carriers: 3

GenotypeQuality
all individuals: 103
bin: 4.25e1
variant carriers: 5

GenotypeQuality
all individuals: 103
bin: 5.75e1
variant carriers: 8

East Asian
type: Population
allele count: 57
allele frequency: 6.597222222222222e-3
allele num: 8640
num of homozygotes: 0

African
type: Population
allele count: 309
allele frequency: 3.030600235386426e-2
allele num: 10196
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 454
allele frequency: 6.973886328725039e-2
allele num: 6510
num of homozygotes: 0

Latino
type: Population
allele count: 40
allele frequency: 3.457814661134163e-3
allele num: 11568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1322
allele frequency: 1.994809270883631e-2
allele num: 66272
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 3.635041802980734e-4
allele num: 16506
num of homozygotes: 0

Other
type: Population
allele count: 42
allele frequency: 4.697986577181208e-2
allele num: 894
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.7892e2

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.858e0

QD
type: SiteQuality
SIO_000300: 9.279999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: -2.57e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.778e2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.23e-2

DP
type: SiteQuality
SIO_000300: 1.716116e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.15e0

MQ
type: SiteQuality
SIO_000300: 5.908e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.586e0

GenotypeQuality
all individuals: 50
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 735
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5499
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47327
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10314
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505479947007106e-5
allele num: 66424
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.855e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.57e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.653e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

QD
type: SiteQuality
SIO_000300: 1.71e0

MQRankSum
type: SiteQuality
SIO_000300: -1.733e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.57e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.494e0

DP
type: SiteQuality
SIO_000300: 1.570746e6

GenotypeQuality
all individuals: 212
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1267
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 721
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3148
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 332
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 434
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5489
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505706628120577e-5
allele num: 66414
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10312
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.654049022649705e-4
allele num: 6446
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.644536652835408e-5
allele num: 11568
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 2.82e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.83e2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.793e0

MQ
type: SiteQuality
SIO_000300: 5.905e1

FS
type: SiteQuality
SIO_000300: 1.96133e2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.79e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.269e0

QD
type: SiteQuality
SIO_000300: 4.13e0

DP
type: SiteQuality
SIO_000300: 1.569308e6

GenotypeQuality
all individuals: 1236
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47438
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1279
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5511
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 727
bin: 8.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.688044952528579e-5
allele num: 10322
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66428
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 6.42759e2

MQ
type: SiteQuality
SIO_000300: 5.689e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

MQRankSum
type: SiteQuality
SIO_000300: -1.733e0

VQSLOD
type: SiteQuality
SIO_000300: -1.873e3

DP
type: SiteQuality
SIO_000300: 1.569658e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.6e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.733e0

QD
type: SiteQuality
SIO_000300: 5.75e0

GenotypeQuality
all individuals: 3167
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 728
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1232
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47554
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 1280
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 0

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

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.156871818602499e-4
allele num: 8644
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66446
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

MQRankSum
type: SiteQuality
SIO_000300: -4.4e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.22e-1

MQ
type: SiteQuality
SIO_000300: 5.949e1

FS
type: SiteQuality
SIO_000300: 2.4804e2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.95e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.8e2

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 1.570573e6

QD
type: SiteQuality
SIO_000300: 8.119999999999999e0

GenotypeQuality
all individuals: 37
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3346
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 29
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.75e1
variant carriers: 0

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

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

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

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.366e0

VQSLOD
type: SiteQuality
SIO_000300: 9.6e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.37e-1

DP
type: SiteQuality
SIO_000300: 1.545837e6

ClippingRankSum
type: SiteQuality
SIO_000300: 9.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 5.49e-1

MQ
type: SiteQuality
SIO_000300: 5.948e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

QD
type: SiteQuality
SIO_000300: 1.139e1

GenotypeQuality
all individuals: 9
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 448
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5523
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 747
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1283
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 346
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47690
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.615384615384615e-5
allele num: 10400
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 1.286e1

MQ
type: SiteQuality
SIO_000300: 5.974e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.32e-1

FS
type: SiteQuality
SIO_000300: 2.42e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.51e0

DP
type: SiteQuality
SIO_000300: 1.542665e6

MQRankSum
type: SiteQuality
SIO_000300: -8.49e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.46e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1249
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47677
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5522
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 746
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 345
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 8.991727610598249e-5
allele num: 66728
num of homozygotes: 0

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.186e1

MQ
type: SiteQuality
SIO_000300: 5.98e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.06e-1

FS
type: SiteQuality
SIO_000300: 5.649999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.54326e6

VQSLOD
type: SiteQuality
SIO_000300: 2.22e0

MQRankSum
type: SiteQuality
SIO_000300: 7.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.94e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.74e-1

GenotypeQuality
all individuals: 12
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5525
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1282
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 344
bin: 8.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.615384615384615e-5
allele num: 10400
num of homozygotes: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 2.31107002542177e-4
allele num: 8654
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -7.35e-1

QD
type: SiteQuality
SIO_000300: 1.26e1

FS
type: SiteQuality
SIO_000300: 1.845e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.38e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 6.2e-2

MQ
type: SiteQuality
SIO_000300: 5.965e1

VQSLOD
type: SiteQuality
SIO_000300: 2.35e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.77e-1

DP
type: SiteQuality
SIO_000300: 1.542918e6

GenotypeQuality
all individuals: 4
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5525
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47724
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 345
bin: 8.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.922337562475971e-4
allele num: 10404
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -2.14e-1

FS
type: SiteQuality
SIO_000300: 2.663e0

MQ
type: SiteQuality
SIO_000300: 5.945e1

DP
type: SiteQuality
SIO_000300: 1.542973e6

QD
type: SiteQuality
SIO_000300: 1.315e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.94e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.379999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.11e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.76e-1

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

GenotypeQuality
all individuals: 745
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 345
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3348
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1252
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47721
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

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

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

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

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

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

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

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

FS
type: SiteQuality
SIO_000300: 4.005e0

MQRankSum
type: SiteQuality
SIO_000300: 1.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.45e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.111e0

MQ
type: SiteQuality
SIO_000300: 5.961e1

QD
type: SiteQuality
SIO_000300: 1.476e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 2.62e0

DP
type: SiteQuality
SIO_000300: 1.542919e6

VQSLOD
type: SiteQuality
SIO_000300: 3.19e-1

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1250
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5518
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3349
bin: 9.75e1
variant carriers: 1

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

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

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

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.7e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.479e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.542882e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.61e-1

MQ
type: SiteQuality
SIO_000300: 5.937e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.159e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.25e-1