20-34060682-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34060682
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34060682
    reference: chr 20
allele count: 2
allele frequency: 1.652701340340787e-5
allele num: 121014
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000380661
  ensembl transcript: ENST00000397527
  gene symbol: CEP250
  hgvsc: ENST00000397527.1:c.1209+26A>T
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000419137
  ensembl transcript: ENST00000461386
  gene symbol: CEP250
  hgvsc: ENST00000461386.1:c.1209+26A>T
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000341541
  ensembl transcript: ENST00000342580
  gene symbol: CEP250
  hgvsc: ENST00000342580.4:c.1209+26A>T
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000413827
  ensembl transcript: ENST00000425934
  gene symbol: CEP250
  hgvsc: ENST00000425934.1:c.1206+26A>T
  variant of: http://identifiers.org/hgnc/1859
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2702
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7647
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4671
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1743
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3486
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2406
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7298
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6856
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4287
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6078
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5951
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2137
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35981
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2786
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1838
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1523
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3500
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6822
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3208
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: FS

20-34060689-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34060689
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34060689
    reference: chr 20
allele count: 1
allele frequency: 8.268836409340477e-6
allele num: 120936
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000341541
  ensembl transcript: ENST00000342580
  gene symbol: CEP250
  hgvsc: ENST00000342580.4:c.1209+33G>A
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000380661
  ensembl transcript: ENST00000397527
  gene symbol: CEP250
  hgvsc: ENST00000397527.1:c.1209+33G>A
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000419137
  ensembl transcript: ENST00000461386
  gene symbol: CEP250
  hgvsc: ENST00000461386.1:c.1209+33G>A
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000413827
  ensembl transcript: ENST00000425934
  gene symbol: CEP250
  hgvsc: ENST00000425934.1:c.1206+33G>A
  variant of: http://identifiers.org/hgnc/1859
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4671
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5984
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6828
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5948
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3484
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1247
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2137
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7645
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1744
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2403
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7299
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4079
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1509
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35974
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6115
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2773
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 735
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2851
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3496
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff

20-34060689-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34060689
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34060689
    reference: chr 20
allele count: 1
allele frequency: 8.268836409340477e-6
allele num: 120936
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000413827
  ensembl transcript: ENST00000425934
  gene symbol: CEP250
  hgvsc: ENST00000425934.1:c.1206+33G>C
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000341541
  ensembl transcript: ENST00000342580
  gene symbol: CEP250
  hgvsc: ENST00000342580.4:c.1209+33G>C
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000380661
  ensembl transcript: ENST00000397527
  gene symbol: CEP250
  hgvsc: ENST00000397527.1:c.1209+33G>C
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000419137
  ensembl transcript: ENST00000461386
  gene symbol: CEP250
  hgvsc: ENST00000461386.1:c.1209+33G>C
  variant of: http://identifiers.org/hgnc/1859
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1744
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6828
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5984
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1247
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4079
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4671
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7299
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2403
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5948
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7645
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3484
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2137
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3496
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2851
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1839
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6115
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2773
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 735
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1509
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum

20-34060691-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34060691
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34060691
    reference: chr 20
allele count: 1
allele frequency: 8.270614506657845e-6
allele num: 120910
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000413827
  ensembl transcript: ENST00000425934
  gene symbol: CEP250
  hgvsc: ENST00000425934.1:c.1206+35G>C
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000380661
  ensembl transcript: ENST00000397527
  gene symbol: CEP250
  hgvsc: ENST00000397527.1:c.1209+35G>C
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000419137
  ensembl transcript: ENST00000461386
  gene symbol: CEP250
  hgvsc: ENST00000461386.1:c.1209+35G>C
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000341541
  ensembl transcript: ENST00000342580
  gene symbol: CEP250
  hgvsc: ENST00000342580.4:c.1209+35G>C
  variant of: http://identifiers.org/hgnc/1859
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2137
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3483
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1247
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2170
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5947
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3996
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6814
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5954
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4671
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7646
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7296
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1743
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2402
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3189
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1837
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 741
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5903
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2831
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3493
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2761
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

20-34060696-G-GTGTC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34060696
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34060700
    reference: chr 20
allele count: 1
allele frequency: 8.274036074797286e-6
allele num: 120860
alternate allele: GTGTC
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000380661
  ensembl transcript: ENST00000397527
  gene symbol: CEP250
  hgvsc: ENST00000397527.1:c.1209+42_1209+45dupGTCT
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000413827
  ensembl transcript: ENST00000425934
  gene symbol: CEP250
  hgvsc: ENST00000425934.1:c.1206+42_1206+45dupGTCT
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000419137
  ensembl transcript: ENST00000461386
  gene symbol: CEP250
  hgvsc: ENST00000461386.1:c.1209+42_1209+45dupGTCT
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000341541
  ensembl transcript: ENST00000342580
  gene symbol: CEP250
  hgvsc: ENST00000342580.4:c.1209+42_1209+45dupGTCT
  variant of: http://identifiers.org/hgnc/1859
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1961
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3482
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7289
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5857
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1247
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1967
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6798
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7646
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1743
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2137
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2402
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3725
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5947
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4669
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 872
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1832
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3491
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3184
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2797
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 780
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 767
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35967
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

20-34060698-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34060698
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34060698
    reference: chr 20
allele count: 1
allele frequency: 8.279653579294243e-6
allele num: 120778
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000413827
  ensembl transcript: ENST00000425934
  gene symbol: CEP250
  hgvsc: ENST00000425934.1:c.1206+42G>A
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000341541
  ensembl transcript: ENST00000342580
  gene symbol: CEP250
  hgvsc: ENST00000342580.4:c.1209+42G>A
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000380661
  ensembl transcript: ENST00000397527
  gene symbol: CEP250
  hgvsc: ENST00000397527.1:c.1209+42G>A
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000419137
  ensembl transcript: ENST00000461386
  gene symbol: CEP250
  hgvsc: ENST00000461386.1:c.1209+42G>A
  variant of: http://identifiers.org/hgnc/1859
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5703
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3482
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4670
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2137
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7285
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7638
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3464
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2236
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2402
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2154
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5945
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1247
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6755
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1743
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3182
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 931
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3489
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2687
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 945
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1476
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2739
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1829
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: DP

20-34060699-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34060699
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34060699
    reference: chr 20
allele count: 8
allele frequency: 6.623503502177477e-5
allele num: 120782
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000413827
  ensembl transcript: ENST00000425934
  gene symbol: CEP250
  hgvsc: ENST00000425934.1:c.1206+43T>C
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000419137
  ensembl transcript: ENST00000461386
  gene symbol: CEP250
  hgvsc: ENST00000461386.1:c.1209+43T>C
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000380661
  ensembl transcript: ENST00000397527
  gene symbol: CEP250
  hgvsc: ENST00000397527.1:c.1209+43T>C
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000341541
  ensembl transcript: ENST00000342580
  gene symbol: CEP250
  hgvsc: ENST00000342580.4:c.1209+43T>C
  variant of: http://identifiers.org/hgnc/1859
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1247
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4670
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1308
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3479
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2402
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6754
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2162
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2137
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5680
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3482
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7635
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7285
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2234
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5943
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1743
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2734
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2684
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35966
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 944
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 756
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 929
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1830
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1478
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum

20-34060708-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34060708
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34060708
    reference: chr 20
allele count: 2
allele frequency: 1.659062629614268e-5
allele num: 120550
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000380661
  ensembl transcript: ENST00000397527
  gene symbol: CEP250
  hgvsc: ENST00000397527.1:c.1209+52G>A
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000341541
  ensembl transcript: ENST00000342580
  gene symbol: CEP250
  hgvsc: ENST00000342580.4:c.1209+52G>A
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000419137
  ensembl transcript: ENST00000461386
  gene symbol: CEP250
  hgvsc: ENST00000461386.1:c.1209+52G>A
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000413827
  ensembl transcript: ENST00000425934
  gene symbol: CEP250
  hgvsc: ENST00000425934.1:c.1206+52G>A
  variant of: http://identifiers.org/hgnc/1859
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3432
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2137
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6661
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4669
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5121
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1743
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7272
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5941
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2402
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2884
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3483
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7604
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1247
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2195
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3485
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2366
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1041
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1315
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 968
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3167
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35951
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2444
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1833
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1226
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum

20-34061149-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34061149
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34061149
    reference: chr 20
allele count: 12
allele frequency: 1.06102672018957e-4
allele num: 113098
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000341541
  ensembl transcript: ENST00000342580
  gene symbol: CEP250
  hgvsc: ENST00000342580.4:c.1210-50C>T
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000419137
  ensembl transcript: ENST00000461386
  gene symbol: CEP250
  hgvsc: ENST00000461386.1:c.1210-50C>T
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000413827
  ensembl transcript: ENST00000425934
  gene symbol: CEP250
  hgvsc: ENST00000425934.1:c.1207-50C>T
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000380661
  ensembl transcript: ENST00000397527
  gene symbol: CEP250
  hgvsc: ENST00000397527.1:c.1210-50C>T
  variant of: http://identifiers.org/hgnc/1859
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3264
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5629
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3730
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16010
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 23596
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6107
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2446
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1692
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2663
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1076
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1544
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1069
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1750
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1143
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2368
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 863
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 734
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1208
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1625
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

20-34061160-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34061160
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34061160
    reference: chr 20
allele count: 1
allele frequency: 8.810417437578192e-6
allele num: 113502
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000419137
  ensembl transcript: ENST00000461386
  gene symbol: CEP250
  hgvsc: ENST00000461386.1:c.1210-39C>G
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000341541
  ensembl transcript: ENST00000342580
  gene symbol: CEP250
  hgvsc: ENST00000342580.4:c.1210-39C>G
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000413827
  ensembl transcript: ENST00000425934
  gene symbol: CEP250
  hgvsc: ENST00000425934.1:c.1207-39C>G
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000380661
  ensembl transcript: ENST00000397527
  gene symbol: CEP250
  hgvsc: ENST00000397527.1:c.1210-39C>G
  variant of: http://identifiers.org/hgnc/1859
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3504
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3259
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6048
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2082
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19258
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24359
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1509
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 733
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39624
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 831
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1495
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3240
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1337
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 581
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1279
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

20-34061161-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34061161
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34061161
    reference: chr 20
allele count: 1
allele frequency: 8.802197028378284e-6
allele num: 113608
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000341541
  ensembl transcript: ENST00000342580
  gene symbol: CEP250
  hgvsc: ENST00000342580.4:c.1210-38T>G
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000413827
  ensembl transcript: ENST00000425934
  gene symbol: CEP250
  hgvsc: ENST00000425934.1:c.1207-38T>G
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000419137
  ensembl transcript: ENST00000461386
  gene symbol: CEP250
  hgvsc: ENST00000461386.1:c.1210-38T>G
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000380661
  ensembl transcript: ENST00000397527
  gene symbol: CEP250
  hgvsc: ENST00000397527.1:c.1210-38T>G
  variant of: http://identifiers.org/hgnc/1859
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24435
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1927
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6040
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3284
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19432
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3444
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6326
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3275
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39872
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1485
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1276
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1039
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 830
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ClippingRankSum

20-34061163-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34061163
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34061163
    reference: chr 20
allele count: 1
allele frequency: 8.799408679736721e-6
allele num: 113644
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000413827
  ensembl transcript: ENST00000425934
  gene symbol: CEP250
  hgvsc: ENST00000425934.1:c.1207-36G>A
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000380661
  ensembl transcript: ENST00000397527
  gene symbol: CEP250
  hgvsc: ENST00000397527.1:c.1210-36G>A
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000419137
  ensembl transcript: ENST00000461386
  gene symbol: CEP250
  hgvsc: ENST00000461386.1:c.1210-36G>A
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000341541
  ensembl transcript: ENST00000342580
  gene symbol: CEP250
  hgvsc: ENST00000342580.4:c.1210-36G>A
  variant of: http://identifiers.org/hgnc/1859
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19942
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3289
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24555
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6044
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3299
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6347
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3362
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1508
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1111
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 999
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40660
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1272
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1398
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD

20-34061164-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34061164
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34061164
    reference: chr 20
allele count: 1
allele frequency: 8.793064031092274e-6
allele num: 113726
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000380661
  ensembl transcript: ENST00000397527
  gene symbol: CEP250
  hgvsc: ENST00000397527.1:c.1210-35T>C
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000413827
  ensembl transcript: ENST00000425934
  gene symbol: CEP250
  hgvsc: ENST00000425934.1:c.1207-35T>C
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000419137
  ensembl transcript: ENST00000461386
  gene symbol: CEP250
  hgvsc: ENST00000461386.1:c.1210-35T>C
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000341541
  ensembl transcript: ENST00000342580
  gene symbol: CEP250
  hgvsc: ENST00000342580.4:c.1210-35T>C
  variant of: http://identifiers.org/hgnc/1859
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20156
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24605
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3304
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3205
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6031
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40914
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1039
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 829
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1359
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6358
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 971
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3380
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: African
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP

20-34061167-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34061167
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34061167
    reference: chr 20
allele count: 1
allele frequency: 8.783178456619882e-6
allele num: 113854
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000419137
  ensembl transcript: ENST00000461386
  gene symbol: CEP250
  hgvsc: ENST00000461386.1:c.1210-32A>G
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000341541
  ensembl transcript: ENST00000342580
  gene symbol: CEP250
  hgvsc: ENST00000342580.4:c.1210-32A>G
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000413827
  ensembl transcript: ENST00000425934
  gene symbol: CEP250
  hgvsc: ENST00000425934.1:c.1207-32A>G
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000380661
  ensembl transcript: ENST00000397527
  gene symbol: CEP250
  hgvsc: ENST00000397527.1:c.1210-32A>G
  variant of: http://identifiers.org/hgnc/1859
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24784
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3288
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2967
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6040
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20628
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1233
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 936
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6389
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1513
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41582
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1275
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 851
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3417
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ

20-34061185-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34061185
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34061185
    reference: chr 20
allele count: 4
allele frequency: 3.473910928923782e-5
allele num: 115144
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000413827
  ensembl transcript: ENST00000425934
  gene symbol: CEP250
  hgvsc: ENST00000425934.1:c.1207-14C>T
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000419137
  ensembl transcript: ENST00000461386
  gene symbol: CEP250
  hgvsc: ENST00000461386.1:c.1210-14C>T
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000380661
  ensembl transcript: ENST00000397527
  gene symbol: CEP250
  hgvsc: ENST00000397527.1:c.1210-14C>T
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000341541
  ensembl transcript: ENST00000342580
  gene symbol: CEP250
  hgvsc: ENST00000342580.4:c.1210-14C>T
  variant of: http://identifiers.org/hgnc/1859
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21824
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2878
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25616
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6141
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 765
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6527
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1303
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43562
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3138
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1579
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 829
  bin: 9.75e1
  variant carriers: 4
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

20-34061186-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34061186
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34061186
    reference: chr 20
allele count: 1
allele frequency: 8.665060742075802e-6
allele num: 115406
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000413827
  ensembl transcript: ENST00000425934
  gene symbol: CEP250
  hgvsc: ENST00000425934.1:c.1207-13T>C
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000341541
  ensembl transcript: ENST00000342580
  gene symbol: CEP250
  hgvsc: ENST00000342580.4:c.1210-13T>C
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000419137
  ensembl transcript: ENST00000461386
  gene symbol: CEP250
  hgvsc: ENST00000461386.1:c.1210-13T>C
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000380661
  ensembl transcript: ENST00000397527
  gene symbol: CEP250
  hgvsc: ENST00000397527.1:c.1210-13T>C
  variant of: http://identifiers.org/hgnc/1859
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2831
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25651
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6123
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21978
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1916
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6555
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1308
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 826
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1589
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 747
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

20-34061187-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34061187
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34061187
    reference: chr 20
allele count: 4
allele frequency: 3.464043231259526e-5
allele num: 115472
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000341541
  ensembl transcript: ENST00000342580
  gene symbol: CEP250
  hgvsc: ENST00000342580.4:c.1210-12C>G
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000419137
  ensembl transcript: ENST00000461386
  gene symbol: CEP250
  hgvsc: ENST00000461386.1:c.1210-12C>G
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000380661
  ensembl transcript: ENST00000397527
  gene symbol: CEP250
  hgvsc: ENST00000397527.1:c.1210-12C>G
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000413827
  ensembl transcript: ENST00000425934
  gene symbol: CEP250
  hgvsc: ENST00000425934.1:c.1207-12C>G
  variant of: http://identifiers.org/hgnc/1859
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6132
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2766
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1884
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25679
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22043
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1310
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1591
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43831
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 729
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6557
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 828
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQ

20-34061191-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34061191
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34061191
    reference: chr 20
allele count: 1
allele frequency: 8.625150940141453e-6
allele num: 115940
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000341541
  ensembl transcript: ENST00000342580
  gene symbol: CEP250
  hgvsc: ENST00000342580.4:c.1210-8C>T
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000419137
  ensembl transcript: ENST00000461386
  gene symbol: CEP250
  hgvsc: ENST00000461386.1:c.1210-8C>T
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000413827
  ensembl transcript: ENST00000425934
  gene symbol: CEP250
  hgvsc: ENST00000425934.1:c.1207-8C>T
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000380661
  ensembl transcript: ENST00000397527
  gene symbol: CEP250
  hgvsc: ENST00000397527.1:c.1210-8C>T
  variant of: http://identifiers.org/hgnc/1859
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2544
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6142
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1703
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22374
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25766
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1597
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 621
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 825
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2789
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 9.25e1
  variant carriers: 0
hgvs: c.1210-8C>T
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD

20-34061195-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34061195
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34061195
    reference: chr 20
allele count: 29
allele frequency: 2.48487652734221e-4
allele num: 116706
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000419137
  ensembl transcript: ENST00000461386
  gene symbol: CEP250
  hgvsc: ENST00000461386.1:c.1210-4A>G
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000413827
  ensembl transcript: ENST00000425934
  gene symbol: CEP250
  hgvsc: ENST00000425934.1:c.1207-4A>G
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000341541
  ensembl transcript: ENST00000342580
  gene symbol: CEP250
  hgvsc: ENST00000342580.4:c.1210-4A>G
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000380661
  ensembl transcript: ENST00000397527
  gene symbol: CEP250
  hgvsc: ENST00000397527.1:c.1210-4A>G
  variant of: http://identifiers.org/hgnc/1859
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22733
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6153
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 25906
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2236
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44587
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6647
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1611
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 847
  bin: 9.75e1
  variant carriers: 28
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2510
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 9.25e1
  variant carriers: 1
hgvs: c.1210-4A>G
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

20-34061196-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34061196
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34061196
    reference: chr 20
allele count: 2
allele frequency: 1.713120792147054e-5
allele num: 116746
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000341541
  ensembl transcript: ENST00000342580
  gene symbol: CEP250
  hgvsc: ENST00000342580.4:c.1210-3C>T
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000380661
  ensembl transcript: ENST00000397527
  gene symbol: CEP250
  hgvsc: ENST00000397527.1:c.1210-3C>T
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000413827
  ensembl transcript: ENST00000425934
  gene symbol: CEP250
  hgvsc: ENST00000425934.1:c.1207-3C>T
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000419137
  ensembl transcript: ENST00000461386
  gene symbol: CEP250
  hgvsc: ENST00000461386.1:c.1210-3C>T
  variant of: http://identifiers.org/hgnc/1859
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22801
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2146
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25951
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6163
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44747
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1314
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2414
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 822
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 6654
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 581
  bin: 8.25e1
  variant carriers: 0
hgvs: c.1210-3C>T
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

20-34061200-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34061200
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34061200
    reference: chr 20
allele count: 1
allele frequency: 8.513826454161559e-6
allele num: 117456
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000419137
  ensembl transcript: ENST00000461386
  gene symbol: CEP250
  hgvsc: ENST00000461386.1:c.1211A>G
  hgvsp: ENSP00000419137.1:p.Asp404Gly
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000341541
  ensembl transcript: ENST00000342580
  gene symbol: CEP250
  hgvsc: ENST00000342580.4:c.1211A>G
  hgvsp: ENSP00000341541.4:p.Asp404Gly
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000413827
  ensembl transcript: ENST00000425934
  gene symbol: CEP250
  hgvsc: ENST00000425934.1:c.1208A>G
  hgvsp: ENSP00000413827.1:p.Asp403Gly
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000380661
  ensembl transcript: ENST00000397527
  gene symbol: CEP250
  hgvsc: ENST00000397527.1:c.1211A>G
  hgvsp: ENSP00000380661.1:p.Asp404Gly
  variant of: http://identifiers.org/hgnc/1859
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6167
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26112
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23166
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2139
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1621
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1325
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 822
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asp404Gly
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS

20-34061202-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34061202
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34061202
    reference: chr 20
allele count: 13
allele frequency: 1.104728236853734e-4
allele num: 117676
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000380661
  ensembl transcript: ENST00000397527
  gene symbol: CEP250
  hgvsc: ENST00000397527.1:c.1213C>T
  hgvsp: ENST00000397527.1:c.1213C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000341541
  ensembl transcript: ENST00000342580
  gene symbol: CEP250
  hgvsc: ENST00000342580.4:c.1213C>T
  hgvsp: ENST00000342580.4:c.1213C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000419137
  ensembl transcript: ENST00000461386
  gene symbol: CEP250
  hgvsc: ENST00000461386.1:c.1213C>T
  hgvsp: ENST00000461386.1:c.1213C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000413827
  ensembl transcript: ENST00000425934
  gene symbol: CEP250
  hgvsc: ENST00000425934.1:c.1210C>T
  hgvsp: ENST00000425934.1:c.1210C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1859
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1754
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26179
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23303
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6184
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 832
  bin: 9.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45355
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1999
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6701
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu405Leu
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum

20-34061204-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34061204
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34061204
    reference: chr 20
allele count: 6
allele frequency: 5.084228722502796e-5
allele num: 118012
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000380661
  ensembl transcript: ENST00000397527
  gene symbol: CEP250
  hgvsc: ENST00000397527.1:c.1215A>G
  hgvsp: ENST00000397527.1:c.1215A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000413827
  ensembl transcript: ENST00000425934
  gene symbol: CEP250
  hgvsc: ENST00000425934.1:c.1212A>G
  hgvsp: ENST00000425934.1:c.1212A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000419137
  ensembl transcript: ENST00000461386
  gene symbol: CEP250
  hgvsc: ENST00000461386.1:c.1215A>G
  hgvsp: ENST00000461386.1:c.1215A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000341541
  ensembl transcript: ENST00000342580
  gene symbol: CEP250
  hgvsc: ENST00000342580.4:c.1215A>G
  hgvsp: ENST00000342580.4:c.1215A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1859
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23481
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1626
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26280
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6198
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1857
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1330
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 581
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1627
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45664
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 823
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu405Leu
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

20-34061213-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34061213
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34061213
    reference: chr 20
allele count: 1
allele frequency: 8.389543273264204e-6
allele num: 119196
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000341541
  ensembl transcript: ENST00000342580
  gene symbol: CEP250
  hgvsc: ENST00000342580.4:c.1224G>C
  hgvsp: ENSP00000341541.4:p.Gln408His
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000380661
  ensembl transcript: ENST00000397527
  gene symbol: CEP250
  hgvsc: ENST00000397527.1:c.1224G>C
  hgvsp: ENSP00000380661.1:p.Gln408His
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000413827
  ensembl transcript: ENST00000425934
  gene symbol: CEP250
  hgvsc: ENST00000425934.1:c.1221G>C
  hgvsp: ENSP00000413827.1:p.Gln407His
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000419137
  ensembl transcript: ENST00000461386
  gene symbol: CEP250
  hgvsc: ENST00000461386.1:c.1224G>C
  hgvsp: ENSP00000419137.1:p.Gln408His
  variant of: http://identifiers.org/hgnc/1859
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24017
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6235
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26681
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1634
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1275
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46519
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gln408His
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum

20-34061222-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34061222
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34061222
    reference: chr 20
allele count: 1
allele frequency: 8.328475056217207e-6
allele num: 120070
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000419137
  ensembl transcript: ENST00000461386
  gene symbol: CEP250
  hgvsc: ENST00000461386.1:c.1233C>G
  hgvsp: ENST00000461386.1:c.1233C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000413827
  ensembl transcript: ENST00000425934
  gene symbol: CEP250
  hgvsc: ENST00000425934.1:c.1230C>G
  hgvsp: ENST00000425934.1:c.1230C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000341541
  ensembl transcript: ENST00000342580
  gene symbol: CEP250
  hgvsc: ENST00000342580.4:c.1233C>G
  hgvsp: ENST00000342580.4:c.1233C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000380661
  ensembl transcript: ENST00000397527
  gene symbol: CEP250
  hgvsc: ENST00000397527.1:c.1233C>G
  hgvsp: ENST00000397527.1:c.1233C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1859
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24417
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27095
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6302
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 584
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1653
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1347
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 762
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 817
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly411Gly
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

20-34061226-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34061226
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34061226
    reference: chr 20
allele count: 1
allele frequency: 8.30675172780436e-6
allele num: 120384
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000341541
  ensembl transcript: ENST00000342580
  gene symbol: CEP250
  hgvsc: ENST00000342580.4:c.1237C>T
  hgvsp: ENSP00000341541.4:p.Gln413Ter
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000380661
  ensembl transcript: ENST00000397527
  gene symbol: CEP250
  hgvsc: ENST00000397527.1:c.1237C>T
  hgvsp: ENSP00000380661.1:p.Gln413Ter
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000413827
  ensembl transcript: ENST00000425934
  gene symbol: CEP250
  hgvsc: ENST00000425934.1:c.1234C>T
  hgvsp: ENSP00000413827.1:p.Gln412Ter
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000419137
  ensembl transcript: ENST00000461386
  gene symbol: CEP250
  hgvsc: ENST00000461386.1:c.1237C>T
  hgvsp: ENSP00000419137.1:p.Gln413Ter
  variant of: http://identifiers.org/hgnc/1859
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24541
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27194
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6321
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 817
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1661
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47522
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6941
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 581
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gln413Ter
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: FS
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

20-34061231-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34061231
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34061231
    reference: chr 20
allele count: 1
allele frequency: 8.285278716776033e-6
allele num: 120696
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000413827
  ensembl transcript: ENST00000425934
  gene symbol: CEP250
  hgvsc: ENST00000425934.1:c.1239G>A
  hgvsp: ENST00000425934.1:c.1239G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000419137
  ensembl transcript: ENST00000461386
  gene symbol: CEP250
  hgvsc: ENST00000461386.1:c.1242G>A
  hgvsp: ENST00000461386.1:c.1242G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000341541
  ensembl transcript: ENST00000342580
  gene symbol: CEP250
  hgvsc: ENST00000342580.4:c.1242G>A
  hgvsp: ENST00000342580.4:c.1242G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000380661
  ensembl transcript: ENST00000397527
  gene symbol: CEP250
  hgvsc: ENST00000397527.1:c.1242G>A
  hgvsp: ENST00000397527.1:c.1242G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1859
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27316
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24710
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6331
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47959
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1667
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 819
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Glu414Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD

20-34061231-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34061231
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34061231
    reference: chr 20
allele count: 4
allele frequency: 3.314111486710413e-5
allele num: 120696
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000419137
  ensembl transcript: ENST00000461386
  gene symbol: CEP250
  hgvsc: ENST00000461386.1:c.1242G>C
  hgvsp: ENSP00000419137.1:p.Glu414Asp
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000413827
  ensembl transcript: ENST00000425934
  gene symbol: CEP250
  hgvsc: ENST00000425934.1:c.1239G>C
  hgvsp: ENSP00000413827.1:p.Glu413Asp
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000380661
  ensembl transcript: ENST00000397527
  gene symbol: CEP250
  hgvsc: ENST00000397527.1:c.1242G>C
  hgvsp: ENSP00000380661.1:p.Glu414Asp
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000341541
  ensembl transcript: ENST00000342580
  gene symbol: CEP250
  hgvsc: ENST00000342580.4:c.1242G>C
  hgvsp: ENSP00000341541.4:p.Glu414Asp
  variant of: http://identifiers.org/hgnc/1859
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27316
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6331
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24710
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 819
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6987
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1667
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47959
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Glu414Asp
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

20-34061232-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34061232
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34061232
    reference: chr 20
allele count: 1
allele frequency: 8.282808203293245e-6
allele num: 120732
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000413827
  ensembl transcript: ENST00000425934
  gene symbol: CEP250
  hgvsc: ENST00000425934.1:c.1240G>T
  hgvsp: ENSP00000413827.1:p.Ala414Ser
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000380661
  ensembl transcript: ENST00000397527
  gene symbol: CEP250
  hgvsc: ENST00000397527.1:c.1243G>T
  hgvsp: ENSP00000380661.1:p.Ala415Ser
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000341541
  ensembl transcript: ENST00000342580
  gene symbol: CEP250
  hgvsc: ENST00000342580.4:c.1243G>T
  hgvsp: ENSP00000341541.4:p.Ala415Ser
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000419137
  ensembl transcript: ENST00000461386
  gene symbol: CEP250
  hgvsc: ENST00000461386.1:c.1243G>T
  hgvsp: ENSP00000419137.1:p.Ala415Ser
  variant of: http://identifiers.org/hgnc/1859
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24731
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27335
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6333
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1346
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6999
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1669
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 815
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala415Ser
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff

20-34061236-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34061236
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34061236
    reference: chr 20
allele count: 1
allele frequency: 8.273625337150233e-6
allele num: 120866
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000419137
  ensembl transcript: ENST00000461386
  gene symbol: CEP250
  hgvsc: ENST00000461386.1:c.1247T>C
  hgvsp: ENSP00000419137.1:p.Val416Ala
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000413827
  ensembl transcript: ENST00000425934
  gene symbol: CEP250
  hgvsc: ENST00000425934.1:c.1244T>C
  hgvsp: ENSP00000413827.1:p.Val415Ala
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000341541
  ensembl transcript: ENST00000342580
  gene symbol: CEP250
  hgvsc: ENST00000342580.4:c.1247T>C
  hgvsp: ENSP00000341541.4:p.Val416Ala
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000380661
  ensembl transcript: ENST00000397527
  gene symbol: CEP250
  hgvsc: ENST00000397527.1:c.1247T>C
  hgvsp: ENSP00000380661.1:p.Val416Ala
  variant of: http://identifiers.org/hgnc/1859
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24801
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6341
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27391
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1346
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48105
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 815
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1672
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val416Ala
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

20-34061244-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34061244
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34061244
    reference: chr 20
allele count: 1
allele frequency: 8.259957378619926e-6
allele num: 121066
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000380661
  ensembl transcript: ENST00000397527
  gene symbol: CEP250
  hgvsc: ENST00000397527.1:c.1255T>C
  hgvsp: ENST00000397527.1:c.1255T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000419137
  ensembl transcript: ENST00000461386
  gene symbol: CEP250
  hgvsc: ENST00000461386.1:c.1255T>C
  hgvsp: ENST00000461386.1:c.1255T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000413827
  ensembl transcript: ENST00000425934
  gene symbol: CEP250
  hgvsc: ENST00000425934.1:c.1252T>C
  hgvsp: ENST00000425934.1:c.1252T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000341541
  ensembl transcript: ENST00000342580
  gene symbol: CEP250
  hgvsc: ENST00000342580.4:c.1255T>C
  hgvsp: ENST00000342580.4:c.1255T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1859
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6355
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24847
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27534
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1354
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48374
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7005
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1676
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 815
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Leu419Leu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

20-34061245-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34061245
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34061245
    reference: chr 20
allele count: 10
allele frequency: 8.258320257659592e-5
allele num: 121090
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000413827
  ensembl transcript: ENST00000425934
  gene symbol: CEP250
  hgvsc: ENST00000425934.1:c.1253T>G
  hgvsp: ENSP00000413827.1:p.Leu418Trp
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000341541
  ensembl transcript: ENST00000342580
  gene symbol: CEP250
  hgvsc: ENST00000342580.4:c.1256T>G
  hgvsp: ENSP00000341541.4:p.Leu419Trp
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000419137
  ensembl transcript: ENST00000461386
  gene symbol: CEP250
  hgvsc: ENST00000461386.1:c.1256T>G
  hgvsp: ENSP00000419137.1:p.Leu419Trp
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000380661
  ensembl transcript: ENST00000397527
  gene symbol: CEP250
  hgvsc: ENST00000397527.1:c.1256T>G
  hgvsp: ENSP00000380661.1:p.Leu419Trp
  variant of: http://identifiers.org/hgnc/1859
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24852
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27541
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6357
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1355
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1674
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu419Trp
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: T
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

20-34061246-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34061246
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34061246
    reference: chr 20
allele count: 1
allele frequency: 8.258047467256841e-6
allele num: 121094
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000341541
  ensembl transcript: ENST00000342580
  gene symbol: CEP250
  hgvsc: ENST00000342580.4:c.1257G>A
  hgvsp: ENST00000342580.4:c.1257G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000413827
  ensembl transcript: ENST00000425934
  gene symbol: CEP250
  hgvsc: ENST00000425934.1:c.1254G>A
  hgvsp: ENST00000425934.1:c.1254G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000419137
  ensembl transcript: ENST00000461386
  gene symbol: CEP250
  hgvsc: ENST00000461386.1:c.1257G>A
  hgvsp: ENST00000461386.1:c.1257G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000380661
  ensembl transcript: ENST00000397527
  gene symbol: CEP250
  hgvsc: ENST00000397527.1:c.1257G>A
  hgvsp: ENST00000397527.1:c.1257G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1859
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24831
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27568
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6365
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48334
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7013
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1674
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu419Leu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

20-34061257-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34061257
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34061257
    reference: chr 20
allele count: 3
allele frequency: 2.475165836111019e-5
allele num: 121204
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000341541
  ensembl transcript: ENST00000342580
  gene symbol: CEP250
  hgvsc: ENST00000342580.4:c.1268A>G
  hgvsp: ENSP00000341541.4:p.His423Arg
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000413827
  ensembl transcript: ENST00000425934
  gene symbol: CEP250
  hgvsc: ENST00000425934.1:c.1265A>G
  hgvsp: ENSP00000413827.1:p.His422Arg
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000380661
  ensembl transcript: ENST00000397527
  gene symbol: CEP250
  hgvsc: ENST00000397527.1:c.1268A>G
  hgvsp: ENSP00000380661.1:p.His423Arg
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000419137
  ensembl transcript: ENST00000461386
  gene symbol: CEP250
  hgvsc: ENST00000461386.1:c.1268A>G
  hgvsp: ENSP00000419137.1:p.His423Arg
  variant of: http://identifiers.org/hgnc/1859
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6383
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27685
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24773
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7004
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1355
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
hgvs: p.His423Arg
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum

20-34061268-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34061268
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34061268
    reference: chr 20
allele count: 1
allele frequency: 8.249327679794096e-6
allele num: 121222
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000413827
  ensembl transcript: ENST00000425934
  gene symbol: CEP250
  hgvsc: ENST00000425934.1:c.1276G>A
  hgvsp: ENSP00000413827.1:p.Glu426Lys
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000341541
  ensembl transcript: ENST00000342580
  gene symbol: CEP250
  hgvsc: ENST00000342580.4:c.1279G>A
  hgvsp: ENSP00000341541.4:p.Glu427Lys
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000380661
  ensembl transcript: ENST00000397527
  gene symbol: CEP250
  hgvsc: ENST00000397527.1:c.1279G>A
  hgvsp: ENSP00000380661.1:p.Glu427Lys
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000419137
  ensembl transcript: ENST00000461386
  gene symbol: CEP250
  hgvsc: ENST00000461386.1:c.1279G>A
  hgvsp: ENSP00000419137.1:p.Glu427Lys
  variant of: http://identifiers.org/hgnc/1859
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27721
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24685
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6396
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1337
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 811
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 48446
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7004
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Glu427Lys
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD

20-34061274-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34061274
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34061274
    reference: chr 20
allele count: 1
allele frequency: 8.249736008447729e-6
allele num: 121216
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000413827
  ensembl transcript: ENST00000425934
  gene symbol: CEP250
  hgvsc: ENST00000425934.1:c.1282G>A
  hgvsp: ENSP00000413827.1:p.Glu428Lys
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000419137
  ensembl transcript: ENST00000461386
  gene symbol: CEP250
  hgvsc: ENST00000461386.1:c.1285G>A
  hgvsp: ENSP00000419137.1:p.Glu429Lys
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000380661
  ensembl transcript: ENST00000397527
  gene symbol: CEP250
  hgvsc: ENST00000397527.1:c.1285G>A
  hgvsp: ENSP00000380661.1:p.Glu429Lys
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000341541
  ensembl transcript: ENST00000342580
  gene symbol: CEP250
  hgvsc: ENST00000342580.4:c.1285G>A
  hgvsp: ENSP00000341541.4:p.Glu429Lys
  variant of: http://identifiers.org/hgnc/1859
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24646
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6396
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27735
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1336
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1676
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48447
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Glu429Lys
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

20-34061278-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34061278
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34061278
    reference: chr 20
allele count: 1
allele frequency: 8.251097395953662e-6
allele num: 121196
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000419137
  ensembl transcript: ENST00000461386
  gene symbol: CEP250
  hgvsc: ENST00000461386.1:c.1289G>A
  hgvsp: ENSP00000419137.1:p.Gly430Asp
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000413827
  ensembl transcript: ENST00000425934
  gene symbol: CEP250
  hgvsc: ENST00000425934.1:c.1286G>A
  hgvsp: ENSP00000413827.1:p.Gly429Asp
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000341541
  ensembl transcript: ENST00000342580
  gene symbol: CEP250
  hgvsc: ENST00000342580.4:c.1289G>A
  hgvsp: ENSP00000341541.4:p.Gly430Asp
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000380661
  ensembl transcript: ENST00000397527
  gene symbol: CEP250
  hgvsc: ENST00000397527.1:c.1289G>A
  hgvsp: ENSP00000380661.1:p.Gly430Asp
  variant of: http://identifiers.org/hgnc/1859
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24557
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27745
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6415
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1662
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48295
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6973
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 811
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1328
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly430Asp
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum

20-34061290-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34061290
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34061290
    reference: chr 20
allele count: 10
allele frequency: 8.259002312520647e-5
allele num: 121080
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000413827
  ensembl transcript: ENST00000425934
  gene symbol: CEP250
  hgvsc: ENST00000425934.1:c.1298G>C
  hgvsp: ENSP00000413827.1:p.Arg433Thr
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000380661
  ensembl transcript: ENST00000397527
  gene symbol: CEP250
  hgvsc: ENST00000397527.1:c.1301G>C
  hgvsp: ENSP00000380661.1:p.Arg434Thr
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000341541
  ensembl transcript: ENST00000342580
  gene symbol: CEP250
  hgvsc: ENST00000342580.4:c.1301G>C
  hgvsp: ENSP00000341541.4:p.Arg434Thr
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000419137
  ensembl transcript: ENST00000461386
  gene symbol: CEP250
  hgvsc: ENST00000461386.1:c.1301G>C
  hgvsp: ENSP00000419137.1:p.Arg434Thr
  variant of: http://identifiers.org/hgnc/1859
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27634
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24344
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6399
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1633
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 816
  bin: 9.75e1
  variant carriers: 10
hgvs: p.Arg434Thr
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

20-34061291-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34061291
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34061291
    reference: chr 20
allele count: 1
allele frequency: 8.258865892535638e-6
allele num: 121082
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000341541
  ensembl transcript: ENST00000342580
  gene symbol: CEP250
  hgvsc: ENST00000342580.4:c.1302A>G
  hgvsp: ENST00000342580.4:c.1302A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000413827
  ensembl transcript: ENST00000425934
  gene symbol: CEP250
  hgvsc: ENST00000425934.1:c.1299A>G
  hgvsp: ENST00000425934.1:c.1299A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000419137
  ensembl transcript: ENST00000461386
  gene symbol: CEP250
  hgvsc: ENST00000461386.1:c.1302A>G
  hgvsp: ENST00000461386.1:c.1302A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000380661
  ensembl transcript: ENST00000397527
  gene symbol: CEP250
  hgvsc: ENST00000397527.1:c.1302A>G
  hgvsp: ENST00000397527.1:c.1302A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1859
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27642
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24350
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6398
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 2.25e1
  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: 570
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 808
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1635
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1320
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6924
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg434Arg
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: Latino
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

20-34061295-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34061295
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34061295
    reference: chr 20
allele count: 3
allele frequency: 2.478724283235561e-5
allele num: 121030
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000341541
  ensembl transcript: ENST00000342580
  gene symbol: CEP250
  hgvsc: ENST00000342580.4:c.1306C>T
  hgvsp: ENSP00000341541.4:p.Arg436Trp
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000380661
  ensembl transcript: ENST00000397527
  gene symbol: CEP250
  hgvsc: ENST00000397527.1:c.1306C>T
  hgvsp: ENSP00000380661.1:p.Arg436Trp
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000413827
  ensembl transcript: ENST00000425934
  gene symbol: CEP250
  hgvsc: ENST00000425934.1:c.1303C>T
  hgvsp: ENSP00000413827.1:p.Arg435Trp
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000419137
  ensembl transcript: ENST00000461386
  gene symbol: CEP250
  hgvsc: ENST00000461386.1:c.1306C>T
  hgvsp: ENSP00000419137.1:p.Arg436Trp
  variant of: http://identifiers.org/hgnc/1859
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24274
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27602
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6407
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6886
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47784
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg436Trp
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ

20-34061296-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34061296
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34061296
    reference: chr 20
allele count: 4
allele frequency: 3.305511941161887e-5
allele num: 121010
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000341541
  ensembl transcript: ENST00000342580
  gene symbol: CEP250
  hgvsc: ENST00000342580.4:c.1307G>A
  hgvsp: ENSP00000341541.4:p.Arg436Gln
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000413827
  ensembl transcript: ENST00000425934
  gene symbol: CEP250
  hgvsc: ENST00000425934.1:c.1304G>A
  hgvsp: ENSP00000413827.1:p.Arg435Gln
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000380661
  ensembl transcript: ENST00000397527
  gene symbol: CEP250
  hgvsc: ENST00000397527.1:c.1307G>A
  hgvsp: ENSP00000380661.1:p.Arg436Gln
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000419137
  ensembl transcript: ENST00000461386
  gene symbol: CEP250
  hgvsc: ENST00000461386.1:c.1307G>A
  hgvsp: ENSP00000419137.1:p.Arg436Gln
  variant of: http://identifiers.org/hgnc/1859
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27630
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6374
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24271
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 807
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47809
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6902
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg436Gln
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

20-34061300-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34061300
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34061300
    reference: chr 20
allele count: 2
allele frequency: 1.653357141676174e-5
allele num: 120966
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000341541
  ensembl transcript: ENST00000342580
  gene symbol: CEP250
  hgvsc: ENST00000342580.4:c.1311G>A
  hgvsp: ENST00000342580.4:c.1311G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000413827
  ensembl transcript: ENST00000425934
  gene symbol: CEP250
  hgvsc: ENST00000425934.1:c.1308G>A
  hgvsp: ENST00000425934.1:c.1308G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000380661
  ensembl transcript: ENST00000397527
  gene symbol: CEP250
  hgvsc: ENST00000397527.1:c.1311G>A
  hgvsp: ENST00000397527.1:c.1311G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000419137
  ensembl transcript: ENST00000461386
  gene symbol: CEP250
  hgvsc: ENST00000461386.1:c.1311G>A
  hgvsp: ENST00000461386.1:c.1311G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1859
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6343
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27612
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24273
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 805
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6880
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1607
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu437Leu
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS

20-34061302-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34061302
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34061302
    reference: chr 20
allele count: 1
allele frequency: 8.269246671628215e-6
allele num: 120930
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000413827
  ensembl transcript: ENST00000425934
  gene symbol: CEP250
  hgvsc: ENST00000425934.1:c.1310A>G
  hgvsp: ENSP00000413827.1:p.Gln437Arg
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000419137
  ensembl transcript: ENST00000461386
  gene symbol: CEP250
  hgvsc: ENST00000461386.1:c.1313A>G
  hgvsp: ENSP00000419137.1:p.Gln438Arg
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000341541
  ensembl transcript: ENST00000342580
  gene symbol: CEP250
  hgvsc: ENST00000342580.4:c.1313A>G
  hgvsp: ENSP00000341541.4:p.Gln438Arg
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000380661
  ensembl transcript: ENST00000397527
  gene symbol: CEP250
  hgvsc: ENST00000397527.1:c.1313A>G
  hgvsp: ENSP00000380661.1:p.Gln438Arg
  variant of: http://identifiers.org/hgnc/1859
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27636
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24281
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6297
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47891
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gln438Arg
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: A
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ

20-34061312-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34061312
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34061312
    reference: chr 20
allele count: 2
allele frequency: 1.657660047077545e-5
allele num: 120652
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000419137
  ensembl transcript: ENST00000461386
  gene symbol: CEP250
  hgvsc: ENST00000461386.1:c.1323T>C
  hgvsp: ENST00000461386.1:c.1323T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000380661
  ensembl transcript: ENST00000397527
  gene symbol: CEP250
  hgvsc: ENST00000397527.1:c.1323T>C
  hgvsp: ENST00000397527.1:c.1323T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000341541
  ensembl transcript: ENST00000342580
  gene symbol: CEP250
  hgvsc: ENST00000342580.4:c.1323T>C
  hgvsp: ENST00000342580.4:c.1323T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000413827
  ensembl transcript: ENST00000425934
  gene symbol: CEP250
  hgvsc: ENST00000425934.1:c.1320T>C
  hgvsp: ENST00000425934.1:c.1320T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1859
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6248
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27562
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24011
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1275
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47397
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1576
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr441Thr
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: T
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

20-34061318-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34061318
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34061318
    reference: chr 20
allele count: 1
allele frequency: 8.300683976359652e-6
allele num: 120472
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000413827
  ensembl transcript: ENST00000425934
  gene symbol: CEP250
  hgvsc: ENST00000425934.1:c.1326G>A
  hgvsp: ENST00000425934.1:c.1326G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000380661
  ensembl transcript: ENST00000397527
  gene symbol: CEP250
  hgvsc: ENST00000397527.1:c.1329G>A
  hgvsp: ENST00000397527.1:c.1329G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000341541
  ensembl transcript: ENST00000342580
  gene symbol: CEP250
  hgvsc: ENST00000342580.4:c.1329G>A
  hgvsp: ENST00000342580.4:c.1329G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000419137
  ensembl transcript: ENST00000461386
  gene symbol: CEP250
  hgvsc: ENST00000461386.1:c.1329G>A
  hgvsp: ENST00000461386.1:c.1329G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1859
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23941
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27441
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6224
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6758
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1270
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47368
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 794
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Glu443Glu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff

20-34061319-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34061319
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34061319
    reference: chr 20
allele count: 2
allele frequency: 1.661074382910867e-5
allele num: 120404
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000341541
  ensembl transcript: ENST00000342580
  gene symbol: CEP250
  hgvsc: ENST00000342580.4:c.1330C>T
  hgvsp: ENSP00000341541.4:p.Arg444Trp
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000380661
  ensembl transcript: ENST00000397527
  gene symbol: CEP250
  hgvsc: ENST00000397527.1:c.1330C>T
  hgvsp: ENSP00000380661.1:p.Arg444Trp
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000419137
  ensembl transcript: ENST00000461386
  gene symbol: CEP250
  hgvsc: ENST00000461386.1:c.1330C>T
  hgvsp: ENSP00000419137.1:p.Arg444Trp
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000413827
  ensembl transcript: ENST00000425934
  gene symbol: CEP250
  hgvsc: ENST00000425934.1:c.1327C>T
  hgvsp: ENSP00000413827.1:p.Arg443Trp
  variant of: http://identifiers.org/hgnc/1859
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23852
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27432
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6242
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1540
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1252
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 917
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 793
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Arg444Trp
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ

20-34061320-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34061320
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34061320
    reference: chr 20
allele count: 12
allele frequency: 9.978712080894092e-5
allele num: 120256
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000413827
  ensembl transcript: ENST00000425934
  gene symbol: CEP250
  hgvsc: ENST00000425934.1:c.1328G>A
  hgvsp: ENSP00000413827.1:p.Arg443Gln
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000341541
  ensembl transcript: ENST00000342580
  gene symbol: CEP250
  hgvsc: ENST00000342580.4:c.1331G>A
  hgvsp: ENSP00000341541.4:p.Arg444Gln
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000419137
  ensembl transcript: ENST00000461386
  gene symbol: CEP250
  hgvsc: ENST00000461386.1:c.1331G>A
  hgvsp: ENSP00000419137.1:p.Arg444Gln
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000380661
  ensembl transcript: ENST00000397527
  gene symbol: CEP250
  hgvsc: ENST00000397527.1:c.1331G>A
  hgvsp: ENSP00000380661.1:p.Arg444Gln
  variant of: http://identifiers.org/hgnc/1859
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27352
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6214
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23731
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6657
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1046
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 799
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46908
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1519
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg444Gln
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD

20-34061327-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34061327
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34061327
    reference: chr 20
allele count: 1
allele frequency: 8.342370901810295e-6
allele num: 119870
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000341541
  ensembl transcript: ENST00000342580
  gene symbol: CEP250
  hgvsc: ENST00000342580.4:c.1338T>A
  hgvsp: ENST00000342580.4:c.1338T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000380661
  ensembl transcript: ENST00000397527
  gene symbol: CEP250
  hgvsc: ENST00000397527.1:c.1338T>A
  hgvsp: ENST00000397527.1:c.1338T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000413827
  ensembl transcript: ENST00000425934
  gene symbol: CEP250
  hgvsc: ENST00000425934.1:c.1335T>A
  hgvsp: ENST00000425934.1:c.1335T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000419137
  ensembl transcript: ENST00000461386
  gene symbol: CEP250
  hgvsc: ENST00000461386.1:c.1338T>A
  hgvsp: ENST00000461386.1:c.1338T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1859
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27216
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23536
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6122
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6608
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 787
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1420
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46802
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr446Thr
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

20-34061330-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34061330
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34061330
    reference: chr 20
allele count: 1
allele frequency: 8.361064196250898e-6
allele num: 119602
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000380661
  ensembl transcript: ENST00000397527
  gene symbol: CEP250
  hgvsc: ENST00000397527.1:c.1341G>T
  hgvsp: ENST00000397527.1:c.1341G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000413827
  ensembl transcript: ENST00000425934
  gene symbol: CEP250
  hgvsc: ENST00000425934.1:c.1338G>T
  hgvsp: ENST00000425934.1:c.1338G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000341541
  ensembl transcript: ENST00000342580
  gene symbol: CEP250
  hgvsc: ENST00000342580.4:c.1341G>T
  hgvsp: ENST00000342580.4:c.1341G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000419137
  ensembl transcript: ENST00000461386
  gene symbol: CEP250
  hgvsc: ENST00000461386.1:c.1341G>T
  hgvsp: ENST00000461386.1:c.1341G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1859
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23341
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27100
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6117
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1657
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 784
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6554
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46450
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu447Leu
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: FS

20-34061331-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34061331
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34061331
    reference: chr 20
allele count: 1
allele frequency: 8.36638053645232e-6
allele num: 119526
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000380661
  ensembl transcript: ENST00000397527
  gene symbol: CEP250
  hgvsc: ENST00000397527.1:c.1342G>A
  hgvsp: ENSP00000380661.1:p.Ala448Thr
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000413827
  ensembl transcript: ENST00000425934
  gene symbol: CEP250
  hgvsc: ENST00000425934.1:c.1339G>A
  hgvsp: ENSP00000413827.1:p.Ala447Thr
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000419137
  ensembl transcript: ENST00000461386
  gene symbol: CEP250
  hgvsc: ENST00000461386.1:c.1342G>A
  hgvsp: ENSP00000419137.1:p.Ala448Thr
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000341541
  ensembl transcript: ENST00000342580
  gene symbol: CEP250
  hgvsc: ENST00000342580.4:c.1342G>A
  hgvsp: ENSP00000341541.4:p.Ala448Thr
  variant of: http://identifiers.org/hgnc/1859
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6108
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27042
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23313
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 784
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6530
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1745
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46389
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1444
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala448Thr
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

20-34061331-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34061331
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34061331
    reference: chr 20
allele count: 1
allele frequency: 8.36638053645232e-6
allele num: 119526
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000341541
  ensembl transcript: ENST00000342580
  gene symbol: CEP250
  hgvsc: ENST00000342580.4:c.1342G>T
  hgvsp: ENSP00000341541.4:p.Ala448Ser
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000380661
  ensembl transcript: ENST00000397527
  gene symbol: CEP250
  hgvsc: ENST00000397527.1:c.1342G>T
  hgvsp: ENSP00000380661.1:p.Ala448Ser
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000419137
  ensembl transcript: ENST00000461386
  gene symbol: CEP250
  hgvsc: ENST00000461386.1:c.1342G>T
  hgvsp: ENSP00000419137.1:p.Ala448Ser
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000413827
  ensembl transcript: ENST00000425934
  gene symbol: CEP250
  hgvsc: ENST00000425934.1:c.1339G>T
  hgvsp: ENSP00000413827.1:p.Ala447Ser
  variant of: http://identifiers.org/hgnc/1859
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6108
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23313
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27042
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1745
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1181
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6530
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala448Ser
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

20-34061335-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34061335
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34061335
    reference: chr 20
allele count: 3
allele frequency: 2.523595619038005e-5
allele num: 118878
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000380661
  ensembl transcript: ENST00000397527
  gene symbol: CEP250
  hgvsc: ENST00000397527.1:c.1346G>A
  hgvsp: ENSP00000380661.1:p.Gly449Glu
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000413827
  ensembl transcript: ENST00000425934
  gene symbol: CEP250
  hgvsc: ENST00000425934.1:c.1343G>A
  hgvsp: ENSP00000413827.1:p.Gly448Glu
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000419137
  ensembl transcript: ENST00000461386
  gene symbol: CEP250
  hgvsc: ENST00000461386.1:c.1346G>A
  hgvsp: ENSP00000419137.1:p.Gly449Glu
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000341541
  ensembl transcript: ENST00000342580
  gene symbol: CEP250
  hgvsc: ENST00000342580.4:c.1346G>A
  hgvsp: ENSP00000341541.4:p.Gly449Glu
  variant of: http://identifiers.org/hgnc/1859
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26772
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6030
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22862
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2340
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1408
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6411
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 780
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1143
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gly449Glu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

20-34061344-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34061344
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34061344
    reference: chr 20
allele count: 1
allele frequency: 8.507886811073865e-6
allele num: 117538
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000341541
  ensembl transcript: ENST00000342580
  gene symbol: CEP250
  hgvsc: ENST00000342580.4:c.1355T>C
  hgvsp: ENSP00000341541.4:p.Val452Ala
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000380661
  ensembl transcript: ENST00000397527
  gene symbol: CEP250
  hgvsc: ENST00000397527.1:c.1355T>C
  hgvsp: ENSP00000380661.1:p.Val452Ala
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000419137
  ensembl transcript: ENST00000461386
  gene symbol: CEP250
  hgvsc: ENST00000461386.1:c.1355T>C
  hgvsp: ENSP00000419137.1:p.Val452Ala
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000413827
  ensembl transcript: ENST00000425934
  gene symbol: CEP250
  hgvsc: ENST00000425934.1:c.1352T>C
  hgvsp: ENSP00000413827.1:p.Val451Ala
  variant of: http://identifiers.org/hgnc/1859
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5806
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1882
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2422
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21891
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26312
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1310
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6204
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44548
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1036
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Val452Ala
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP

20-34061350-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34061350
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34061350
    reference: chr 20
allele count: 2
allele frequency: 1.724613686534216e-5
allele num: 115968
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000341541
  ensembl transcript: ENST00000342580
  gene symbol: CEP250
  hgvsc: ENST00000342580.4:c.1361T>G
  hgvsp: ENSP00000341541.4:p.Leu454Arg
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000380661
  ensembl transcript: ENST00000397527
  gene symbol: CEP250
  hgvsc: ENST00000397527.1:c.1361T>G
  hgvsp: ENSP00000380661.1:p.Leu454Arg
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000413827
  ensembl transcript: ENST00000425934
  gene symbol: CEP250
  hgvsc: ENST00000425934.1:c.1358T>G
  hgvsp: ENSP00000413827.1:p.Leu453Arg
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000419137
  ensembl transcript: ENST00000461386
  gene symbol: CEP250
  hgvsc: ENST00000461386.1:c.1361T>G
  hgvsp: ENSP00000419137.1:p.Leu454Arg
  variant of: http://identifiers.org/hgnc/1859
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5615
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20919
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25456
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2637
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3453
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5694
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 772
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 725
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 963
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5095
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42816
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu454Arg
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: DP

20-34061360-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34061360
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34061360
    reference: chr 20
allele count: 1
allele frequency: 8.882888004548038e-6
allele num: 112576
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000413827
  ensembl transcript: ENST00000425934
  gene symbol: CEP250
  hgvsc: ENST00000425934.1:c.1368G>A
  hgvsp: ENST00000425934.1:c.1368G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000419137
  ensembl transcript: ENST00000461386
  gene symbol: CEP250
  hgvsc: ENST00000461386.1:c.1371G>A
  hgvsp: ENST00000461386.1:c.1371G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000380661
  ensembl transcript: ENST00000397527
  gene symbol: CEP250
  hgvsc: ENST00000397527.1:c.1371G>A
  hgvsp: ENST00000397527.1:c.1371G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000341541
  ensembl transcript: ENST00000342580
  gene symbol: CEP250
  hgvsc: ENST00000342580.4:c.1371G>A
  hgvsp: ENST00000342580.4:c.1371G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1859
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23414
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5142
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5924
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4274
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18871
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 824
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8553
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 761
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5244
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1112
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38950
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1041
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Glu457Glu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD

20-34061365-ACT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34061365
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34061363
    reference: chr 20
allele count: 1
allele frequency: 9.100671629566262e-6
allele num: 109882
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000413827
  ensembl transcript: ENST00000425934
  gene symbol: CEP250
  hgvsc: ENST00000425934.1:c.1379_1380delTC
  hgvsp: ENSP00000413827.1:p.Leu460GlnfsTer80
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000419137
  ensembl transcript: ENST00000461386
  gene symbol: CEP250
  hgvsc: ENST00000461386.1:c.1382_1383delTC
  hgvsp: ENSP00000419137.1:p.Leu461GlnfsTer?
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000341541
  ensembl transcript: ENST00000342580
  gene symbol: CEP250
  hgvsc: ENST00000342580.4:c.1382_1383delTC
  hgvsp: ENSP00000341541.4:p.Leu461GlnfsTer80
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000380661
  ensembl transcript: ENST00000397527
  gene symbol: CEP250
  hgvsc: ENST00000397527.1:c.1382_1383delTC
  hgvsp: ENSP00000380661.1:p.Leu461GlnfsTer80
  variant of: http://identifiers.org/hgnc/1859
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21973
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1973
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7862
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17033
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4878
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5503
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11151
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1420
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4712
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1544
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 757
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 926
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu461GlnfsTer80
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: ACT
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff

20-34061366-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34061366
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34061366
    reference: chr 20
allele count: 2
allele frequency: 1.829390995737519e-5
allele num: 109326
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000419137
  ensembl transcript: ENST00000461386
  gene symbol: CEP250
  hgvsc: ENST00000461386.1:c.1377C>T
  hgvsp: ENST00000461386.1:c.1377C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000413827
  ensembl transcript: ENST00000425934
  gene symbol: CEP250
  hgvsc: ENST00000425934.1:c.1374C>T
  hgvsp: ENST00000425934.1:c.1374C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000341541
  ensembl transcript: ENST00000342580
  gene symbol: CEP250
  hgvsc: ENST00000342580.4:c.1377C>T
  hgvsp: ENST00000342580.4:c.1377C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000380661
  ensembl transcript: ENST00000397527
  gene symbol: CEP250
  hgvsc: ENST00000397527.1:c.1377C>T
  hgvsp: ENST00000397527.1:c.1377C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1859
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21699
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8250
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4858
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2009
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5717
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16681
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 905
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 833
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11662
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1621
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4666
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1458
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asp459Asp
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

20-34061369-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34061369
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34061369
    reference: chr 20
allele count: 6
allele frequency: 5.582330064568951e-5
allele num: 107482
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000419137
  ensembl transcript: ENST00000461386
  gene symbol: CEP250
  hgvsc: ENST00000461386.1:c.1380T>C
  hgvsp: ENST00000461386.1:c.1380T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000413827
  ensembl transcript: ENST00000425934
  gene symbol: CEP250
  hgvsc: ENST00000425934.1:c.1377T>C
  hgvsp: ENST00000425934.1:c.1377T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000380661
  ensembl transcript: ENST00000397527
  gene symbol: CEP250
  hgvsc: ENST00000397527.1:c.1380T>C
  hgvsp: ENST00000397527.1:c.1380T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000341541
  ensembl transcript: ENST00000342580
  gene symbol: CEP250
  hgvsc: ENST00000342580.4:c.1380T>C
  hgvsp: ENST00000342580.4:c.1380T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1859
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15141
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9941
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2263
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4650
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6661
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20547
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13812
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32627
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 845
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 936
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 652
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1681
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 775
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser460Ser
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum

20-34061372-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34061372
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34061372
    reference: chr 20
allele count: 1
allele frequency: 9.454834256755479e-6
allele num: 105766
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000341541
  ensembl transcript: ENST00000342580
  gene symbol: CEP250
  hgvsc: ENST00000342580.4:c.1383C>T
  hgvsp: ENST00000342580.4:c.1383C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000413827
  ensembl transcript: ENST00000425934
  gene symbol: CEP250
  hgvsc: ENST00000425934.1:c.1380C>T
  hgvsp: ENST00000425934.1:c.1380C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000419137
  ensembl transcript: ENST00000461386
  gene symbol: CEP250
  hgvsc: ENST00000461386.1:c.1383C>T
  hgvsp: ENST00000461386.1:c.1383C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000380661
  ensembl transcript: ENST00000397527
  gene symbol: CEP250
  hgvsc: ENST00000397527.1:c.1383C>T
  hgvsp: ENST00000397527.1:c.1383C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1859
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14106
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2397
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19571
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11227
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7373
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4494
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1839
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 750
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2181
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4231
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 756
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31431
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 995
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15437
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu461Leu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

20-34061378-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34061378
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34061378
    reference: chr 20
allele count: 1
allele frequency: 9.978048293753741e-6
allele num: 100220
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000419137
  ensembl transcript: ENST00000461386
  gene symbol: CEP250
  hgvsc: ENST00000461386.1:c.1388+1G>T
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000413827
  ensembl transcript: ENST00000425934
  gene symbol: CEP250
  hgvsc: ENST00000425934.1:c.1385+1G>T
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000341541
  ensembl transcript: ENST00000342580
  gene symbol: CEP250
  hgvsc: ENST00000342580.4:c.1388+1G>T
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000380661
  ensembl transcript: ENST00000397527
  gene symbol: CEP250
  hgvsc: ENST00000397527.1:c.1388+1G>T
  variant of: http://identifiers.org/hgnc/1859
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10301
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14935
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3488
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9864
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3597
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16790
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2855
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1389
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21716
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3229
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23225
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2861
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 8.25e1
  variant carriers: 0
hgvs: c.1388+1G>T
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: African
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD

20-34061384-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34061384
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34061384
    reference: chr 20
allele count: 1
allele frequency: 1.037495071898408e-5
allele num: 96386
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000413827
  ensembl transcript: ENST00000425934
  gene symbol: CEP250
  hgvsc: ENST00000425934.1:c.1385+7A>G
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000380661
  ensembl transcript: ENST00000397527
  gene symbol: CEP250
  hgvsc: ENST00000397527.1:c.1388+7A>G
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000419137
  ensembl transcript: ENST00000461386
  gene symbol: CEP250
  hgvsc: ENST00000461386.1:c.1388+7A>G
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000341541
  ensembl transcript: ENST00000342580
  gene symbol: CEP250
  hgvsc: ENST00000342580.4:c.1388+7A>G
  variant of: http://identifiers.org/hgnc/1859
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11457
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20080
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11834
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8813
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3845
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2692
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2366
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3879
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3477
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 894
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18725
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25325
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1490
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 745
  bin: 9.75e1
  variant carriers: 1
hgvs: c.1388+7A>G
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

20-34061385-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34061385
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34061385
    reference: chr 20
allele count: 1
allele frequency: 1.043710599924853e-5
allele num: 95812
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000413827
  ensembl transcript: ENST00000425934
  gene symbol: CEP250
  hgvsc: ENST00000425934.1:c.1385+8G>A
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000419137
  ensembl transcript: ENST00000461386
  gene symbol: CEP250
  hgvsc: ENST00000461386.1:c.1388+8G>A
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000380661
  ensembl transcript: ENST00000397527
  gene symbol: CEP250
  hgvsc: ENST00000397527.1:c.1388+8G>A
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000341541
  ensembl transcript: ENST00000342580
  gene symbol: CEP250
  hgvsc: ENST00000342580.4:c.1388+8G>A
  variant of: http://identifiers.org/hgnc/1859
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11295
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3974
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20666
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11673
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8507
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2561
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 965
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25916
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 745
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3579
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4015
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2319
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 5.75e1
  variant carriers: 0
hgvs: c.1388+8G>A
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

20-34061387-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34061387
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34061387
    reference: chr 20
allele count: 3
allele frequency: 3.196385952949199e-5
allele num: 93856
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000380661
  ensembl transcript: ENST00000397527
  gene symbol: CEP250
  hgvsc: ENST00000397527.1:c.1388+10C>T
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000413827
  ensembl transcript: ENST00000425934
  gene symbol: CEP250
  hgvsc: ENST00000425934.1:c.1385+10C>T
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000419137
  ensembl transcript: ENST00000461386
  gene symbol: CEP250
  hgvsc: ENST00000461386.1:c.1388+10C>T
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000341541
  ensembl transcript: ENST00000342580
  gene symbol: CEP250
  hgvsc: ENST00000342580.4:c.1388+10C>T
  variant of: http://identifiers.org/hgnc/1859
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12251
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2293
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21833
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4288
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10066
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7817
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27051
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4250
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15658
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1197
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3834
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 747
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1612
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

20-34061407-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34061407
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34061407
    reference: chr 20
allele count: 1
allele frequency: 1.343472069215681e-5
allele num: 74434
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000413827
  ensembl transcript: ENST00000425934
  gene symbol: CEP250
  hgvsc: ENST00000425934.1:c.1385+30C>G
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000419137
  ensembl transcript: ENST00000461386
  gene symbol: CEP250
  hgvsc: ENST00000461386.1:c.1388+30C>G
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000341541
  ensembl transcript: ENST00000342580
  gene symbol: CEP250
  hgvsc: ENST00000342580.4:c.1388+30C>G
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000380661
  ensembl transcript: ENST00000397527
  gene symbol: CEP250
  hgvsc: ENST00000397527.1:c.1388+30C>G
  variant of: http://identifiers.org/hgnc/1859
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4896
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2460
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26364
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17989
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4620
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2510
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5225
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30875
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1800
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5610
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1920
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3999
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 738
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ

20-34061411-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34061411
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34061411
    reference: chr 20
allele count: 1
allele frequency: 1.423244427998064e-5
allele num: 70262
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000380661
  ensembl transcript: ENST00000397527
  gene symbol: CEP250
  hgvsc: ENST00000397527.1:c.1388+34G>A
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000341541
  ensembl transcript: ENST00000342580
  gene symbol: CEP250
  hgvsc: ENST00000342580.4:c.1388+34G>A
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000413827
  ensembl transcript: ENST00000425934
  gene symbol: CEP250
  hgvsc: ENST00000425934.1:c.1385+34G>A
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000419137
  ensembl transcript: ENST00000461386
  gene symbol: CEP250
  hgvsc: ENST00000461386.1:c.1388+34G>A
  variant of: http://identifiers.org/hgnc/1859
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5442
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25081
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19270
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4998
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1986
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6747
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2009
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 737
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5588
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2193
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 660
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29244
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5300
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2621
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff

20-34061416-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34061416
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34061416
    reference: chr 20
allele count: 2
allele frequency: 3.514197357323587e-5
allele num: 56912
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000341541
  ensembl transcript: ENST00000342580
  gene symbol: CEP250
  hgvsc: ENST00000342580.4:c.1388+39G>A
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000419137
  ensembl transcript: ENST00000461386
  gene symbol: CEP250
  hgvsc: ENST00000461386.1:c.1388+39G>A
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000413827
  ensembl transcript: ENST00000425934
  gene symbol: CEP250
  hgvsc: ENST00000425934.1:c.1385+39G>A
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000380661
  ensembl transcript: ENST00000397527
  gene symbol: CEP250
  hgvsc: ENST00000397527.1:c.1388+39G>A
  variant of: http://identifiers.org/hgnc/1859
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6324
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1765
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20017
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24193
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5495
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20737
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5074
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5441
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 737
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7151
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8718
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 942
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2325
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4755
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD

20-34061420-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34061420
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34061420
    reference: chr 20
allele count: 37
allele frequency: 6.664265129682997e-4
allele num: 55520
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000413827
  ensembl transcript: ENST00000425934
  gene symbol: CEP250
  hgvsc: ENST00000425934.1:c.1385+43C>T
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000380661
  ensembl transcript: ENST00000397527
  gene symbol: CEP250
  hgvsc: ENST00000397527.1:c.1388+43C>T
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000341541
  ensembl transcript: ENST00000342580
  gene symbol: CEP250
  hgvsc: ENST00000342580.4:c.1388+43C>T
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000419137
  ensembl transcript: ENST00000461386
  gene symbol: CEP250
  hgvsc: ENST00000461386.1:c.1388+43C>T
  variant of: http://identifiers.org/hgnc/1859
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19161
  bin: 1.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 25225
  bin: 7.5e0
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6442
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5188
  bin: 1.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1841
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6783
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5018
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 790
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8806
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1632
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20854
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 997
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4687
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5655
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 772
  bin: 9.75e1
  variant carriers: 38
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 8.75e1
  variant carriers: 2
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

20-34061422-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34061422
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34061422
    reference: chr 20
allele count: 6
allele frequency: 1.078360891445004e-4
allele num: 55640
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000419137
  ensembl transcript: ENST00000461386
  gene symbol: CEP250
  hgvsc: ENST00000461386.1:c.1388+45G>C
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000413827
  ensembl transcript: ENST00000425934
  gene symbol: CEP250
  hgvsc: ENST00000425934.1:c.1385+45G>C
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000380661
  ensembl transcript: ENST00000397527
  gene symbol: CEP250
  hgvsc: ENST00000397527.1:c.1388+45G>C
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000341541
  ensembl transcript: ENST00000342580
  gene symbol: CEP250
  hgvsc: ENST00000342580.4:c.1388+45G>C
  variant of: http://identifiers.org/hgnc/1859
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25420
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6507
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19024
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5068
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5608
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6092
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5019
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2288
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 934
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21634
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8875
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 786
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4695
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

20-34061424-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34061424
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34061424
    reference: chr 20
allele count: 1
allele frequency: 1.8432500184325e-5
allele num: 54252
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000341541
  ensembl transcript: ENST00000342580
  gene symbol: CEP250
  hgvsc: ENST00000342580.4:c.1388+47C>G
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000380661
  ensembl transcript: ENST00000397527
  gene symbol: CEP250
  hgvsc: ENST00000397527.1:c.1388+47C>G
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000413827
  ensembl transcript: ENST00000425934
  gene symbol: CEP250
  hgvsc: ENST00000425934.1:c.1385+47C>G
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000419137
  ensembl transcript: ENST00000461386
  gene symbol: CEP250
  hgvsc: ENST00000461386.1:c.1388+47C>G
  variant of: http://identifiers.org/hgnc/1859
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4998
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18406
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1922
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6540
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26064
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 737
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4681
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8900
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1575
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 999
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2311
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5843
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6858
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20554
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 672
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 849
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD

20-34061648-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34061648
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34061648
    reference: chr 20
allele count: 1
allele frequency: 9.326444199884352e-6
allele num: 107222
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000380661
  ensembl transcript: ENST00000397527
  gene symbol: CEP250
  hgvsc: ENST00000397527.1:c.1389-47A>G
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000419137
  ensembl transcript: ENST00000461386
  gene symbol: CEP250
  hgvsc: ENST00000461386.1:c.1389-47A>G
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000341541
  ensembl transcript: ENST00000342580
  gene symbol: CEP250
  hgvsc: ENST00000342580.4:c.1389-47A>G
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000413827
  ensembl transcript: ENST00000425934
  gene symbol: CEP250
  hgvsc: ENST00000425934.1:c.1386-47A>G
  variant of: http://identifiers.org/hgnc/1859
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5488
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2093
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11246
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9657
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17944
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11966
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23983
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4439
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3747
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1111
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 678
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2420
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4739
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5016
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3146
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 872
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2616
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: European (Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: BaseQRankSum

20-34061660-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34061660
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34061660
    reference: chr 20
allele count: 6
allele frequency: 5.551237926057511e-5
allele num: 108084
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000380661
  ensembl transcript: ENST00000397527
  gene symbol: CEP250
  hgvsc: ENST00000397527.1:c.1389-35A>G
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000419137
  ensembl transcript: ENST00000461386
  gene symbol: CEP250
  hgvsc: ENST00000461386.1:c.1389-35A>G
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000341541
  ensembl transcript: ENST00000342580
  gene symbol: CEP250
  hgvsc: ENST00000342580.4:c.1389-35A>G
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000413827
  ensembl transcript: ENST00000425934
  gene symbol: CEP250
  hgvsc: ENST00000425934.1:c.1386-35A>G
  variant of: http://identifiers.org/hgnc/1859
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7739
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25758
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2212
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5525
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4014
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13567
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2916
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 925
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5953
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2143
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3817
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1283
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1176
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 695
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3372
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35154
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

20-34061660-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34061660
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34061660
    reference: chr 20
allele count: 1
allele frequency: 9.252063210095851e-6
allele num: 108084
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000341541
  ensembl transcript: ENST00000342580
  gene symbol: CEP250
  hgvsc: ENST00000342580.4:c.1389-35A>T
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000380661
  ensembl transcript: ENST00000397527
  gene symbol: CEP250
  hgvsc: ENST00000397527.1:c.1389-35A>T
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000419137
  ensembl transcript: ENST00000461386
  gene symbol: CEP250
  hgvsc: ENST00000461386.1:c.1389-35A>T
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000413827
  ensembl transcript: ENST00000425934
  gene symbol: CEP250
  hgvsc: ENST00000425934.1:c.1386-35A>T
  variant of: http://identifiers.org/hgnc/1859
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2212
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5525
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13567
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25758
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7739
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4014
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2143
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 695
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1176
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3817
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1283
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5953
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 807
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 925
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35154
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

20-34061663-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34061663
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34061663
    reference: chr 20
allele count: 1
allele frequency: 9.214721438970901e-6
allele num: 108522
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000380661
  ensembl transcript: ENST00000397527
  gene symbol: CEP250
  hgvsc: ENST00000397527.1:c.1389-32G>A
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000413827
  ensembl transcript: ENST00000425934
  gene symbol: CEP250
  hgvsc: ENST00000425934.1:c.1386-32G>A
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000341541
  ensembl transcript: ENST00000342580
  gene symbol: CEP250
  hgvsc: ENST00000342580.4:c.1389-32G>A
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000419137
  ensembl transcript: ENST00000461386
  gene symbol: CEP250
  hgvsc: ENST00000461386.1:c.1389-32G>A
  variant of: http://identifiers.org/hgnc/1859
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6757
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27602
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2907
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5478
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13960
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2265
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2950
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 801
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5944
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 852
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 823
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3868
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2272
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 871
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37416
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/20-34061665-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34061665
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34061665
    reference: chr 20
allele count: 1
allele frequency: 9.194725905220765e-6
allele num: 108758
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000380661
  ensembl transcript: ENST00000397527
  gene symbol: CEP250
  hgvsc: ENST00000397527.1:c.1389-30C>A
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000413827
  ensembl transcript: ENST00000425934
  gene symbol: CEP250
  hgvsc: ENST00000425934.1:c.1386-30C>A
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000341541
  ensembl transcript: ENST00000342580
  gene symbol: CEP250
  hgvsc: ENST00000342580.4:c.1389-30C>A
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000419137
  ensembl transcript: ENST00000461386
  gene symbol: CEP250
  hgvsc: ENST00000461386.1:c.1389-30C>A
  variant of: http://identifiers.org/hgnc/1859
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2622
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14291
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6349
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5346
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28111
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2295
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37428
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3901
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 775
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2740
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 800
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 819
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2032
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5709
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: InbreedingCoeff

20-34061666-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34061666
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34061666
    reference: chr 20
allele count: 5
allele frequency: 4.582363399747054e-5
allele num: 109114
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000380661
  ensembl transcript: ENST00000397527
  gene symbol: CEP250
  hgvsc: ENST00000397527.1:c.1389-29T>C
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000341541
  ensembl transcript: ENST00000342580
  gene symbol: CEP250
  hgvsc: ENST00000342580.4:c.1389-29T>C
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000413827
  ensembl transcript: ENST00000425934
  gene symbol: CEP250
  hgvsc: ENST00000425934.1:c.1386-29T>C
  variant of: http://identifiers.org/hgnc/1859
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126001
  ensembl protein: ENSP00000419137
  ensembl transcript: ENST00000461386
  gene symbol: CEP250
  hgvsc: ENST00000461386.1:c.1389-29T>C
  variant of: http://identifiers.org/hgnc/1859
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14394
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6071
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2252
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5291
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28611
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2420
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 742
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5716
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1877
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 825
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38472
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2623
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
reference allele: T

GenotypeQuality
all individuals: 485
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 335
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2918
bin: 6.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.005168890491646e-5
allele num: 66552
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.11e0

VQSLOD
type: SiteQuality
SIO_000300: 3.71e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e0

QD
type: SiteQuality
SIO_000300: 1.472e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 4.17e-1

DP
type: SiteQuality
SIO_000300: 2.943882e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 7.84e-1

FS
type: SiteQuality
SIO_000300: 6.954e0

GenotypeQuality
all individuals: 83
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3195
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1839
bin: 8.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16286
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.483e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.755e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.19e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.639e0

MQRankSum
type: SiteQuality
SIO_000300: 1.25e0

DP
type: SiteQuality
SIO_000300: 2.93613e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

GenotypeQuality
all individuals: 35974
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3195
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 418
bin: 2.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503533303262667e-5
allele num: 66510
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16286
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.19e-1

QD
type: SiteQuality
SIO_000300: 1.483e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.25e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 4.0e-1

FS
type: SiteQuality
SIO_000300: 4.755e0

DP
type: SiteQuality
SIO_000300: 2.93613e6

BaseQRankSum
type: SiteQuality
SIO_000300: -6.639e0

GenotypeQuality
all individuals: 83
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1504
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35971
bin: 9.75e1
variant carriers: 1

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

African
type: Population
allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
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: 0
allele frequency: 0.0e0
allele num: 66502
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: 900
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16272
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.661e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -5.373e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.22e-1

FS
type: SiteQuality
SIO_000300: 1.999e0

DP
type: SiteQuality
SIO_000300: 2.933702e6

MQRankSum
type: SiteQuality
SIO_000300: -1.317e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.159999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 9.6e0

GenotypeQuality
all individuals: 2750
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5296
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1491
bin: 7.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66482
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16236
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: -5.14e-1

DP
type: SiteQuality
SIO_000300: 2.927734e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 3.038e0

QD
type: SiteQuality
SIO_000300: 1.595e1

MQ
type: SiteQuality
SIO_000300: 5.563e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.001e0

VQSLOD
type: SiteQuality
SIO_000300: 2.21e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.92e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.92e-1

GenotypeQuality
all individuals: 683
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4446
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35966
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16174
num of homozygotes: 0

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

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
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: -1.063e0

MQ
type: SiteQuality
SIO_000300: 5.942e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.974e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.4e-2

QD
type: SiteQuality
SIO_000300: 9.960000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.1e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.922215e6

GenotypeQuality
all individuals: 3489
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3179
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4539
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
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: 11564
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66452
num of homozygotes: 0

South Asian
type: Population
allele count: 8
allele frequency: 4.939491232403062e-4
allele num: 16196
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.43e-1

DP
type: SiteQuality
SIO_000300: 2.921906e6

VQSLOD
type: SiteQuality
SIO_000300: 1.72e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.04e-1

QD
type: SiteQuality
SIO_000300: 1.313e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.79e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.75e0

GenotypeQuality
all individuals: 1451
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2704
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 698
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50652324565368e-5
allele num: 66378
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16054
num of homozygotes: 0

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

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.77e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.109e0

VQSLOD
type: SiteQuality
SIO_000300: -2.168e-1

DP
type: SiteQuality
SIO_000300: 2.913171e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: 8.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.223e0

GenotypeQuality
all individuals: 6327
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32602
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 9
allele frequency: 7.942110836569008e-4
allele num: 11332
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.956192751891676e-5
allele num: 10044
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.751969193068441e-5
allele num: 11426
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.553277415346381e-5
allele num: 64380
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.93e-1

FS
type: SiteQuality
SIO_000300: 1.022e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.31e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 6.0e-2

QD
type: SiteQuality
SIO_000300: 1.176e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.79e-1

DP
type: SiteQuality
SIO_000300: 1.42933e6

GenotypeQuality
all individuals: 200
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1040
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6313
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.550243388211949e-5
allele num: 64506
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10080
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 1.454198e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.58e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.995e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.237e0

FS
type: SiteQuality
SIO_000300: 4.713e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.94e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.169e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.09e0

GenotypeQuality
all individuals: 594
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1512
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1263
bin: 3.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10076
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.629616845012081e-5
allele num: 11588
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64528
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 826
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.857e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.712e0

MQRankSum
type: SiteQuality
SIO_000300: -2.002e0

VQSLOD
type: SiteQuality
SIO_000300: -2.573e0

DP
type: SiteQuality
SIO_000300: 1.455723e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

QD
type: SiteQuality
SIO_000300: 9.390000000000001e0

FS
type: SiteQuality
SIO_000300: 1.382e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.34e-1

GenotypeQuality
all individuals: 187
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 829
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 198
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.163061177017911e-4
allele num: 8598
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10086
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11464
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64548
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11602
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 828
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.562e0

FS
type: SiteQuality
SIO_000300: 1.0414e1

QD
type: SiteQuality
SIO_000300: 1.111e1

DP
type: SiteQuality
SIO_000300: 1.46071e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.477e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 9.8e-1

MQ
type: SiteQuality
SIO_000300: 5.829e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.71e0

VQSLOD
type: SiteQuality
SIO_000300: -2.014e0

GenotypeQuality
all individuals: 1273
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 593
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1512
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 826
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11466
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.548562933597621e-5
allele num: 64576
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11636
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10088
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -3.804e-1

QD
type: SiteQuality
SIO_000300: 1.272e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.14e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.59e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.44e0

FS
type: SiteQuality
SIO_000300: 7.021e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.21e0

DP
type: SiteQuality
SIO_000300: 1.462495e6

GenotypeQuality
all individuals: 585
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 828
bin: 9.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 826
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11466
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6536
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.54765221159501e-5
allele num: 64614
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11714
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10092
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -1.976e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.62e-1

DP
type: SiteQuality
SIO_000300: 1.469063e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.512e1

VQSLOD
type: SiteQuality
SIO_000300: -1.117e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.767e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.317e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 577
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 438
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 9.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.155550767904959e-5
allele num: 64982
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10204
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12452
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.498209e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.9e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.34e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.6e-1

QD
type: SiteQuality
SIO_000300: 1.139e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.754e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e-1

GenotypeQuality
all individuals: 43794
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3100
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 694
bin: 2.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12606
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.686587908269631e-5
allele num: 11512
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: -3.785e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.4e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.19e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.5e-2

QD
type: SiteQuality
SIO_000300: 3.78e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.594e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.3e-3

DP
type: SiteQuality
SIO_000300: 1.499719e6

GenotypeQuality
all individuals: 68
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3020
bin: 2.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12642
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65070
num of homozygotes: 0

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

Latino
type: Population
allele count: 3
allele frequency: 2.605071205279611e-4
allele num: 11516
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.525320317266626e-4
allele num: 6556
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 4.77e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.070000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.93e-1

QD
type: SiteQuality
SIO_000300: 1.151e1

DP
type: SiteQuality
SIO_000300: 1.50157e6

MQ
type: SiteQuality
SIO_000300: 5.969e1

GenotypeQuality
all individuals: 44106
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1319
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6606
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65206
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.733952049497293e-5
allele num: 12930
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -4.55e-1

DP
type: SiteQuality
SIO_000300: 1.50745e6

MQRankSum
type: SiteQuality
SIO_000300: -1.166e0

FS
type: SiteQuality
SIO_000300: 6.576e0

QD
type: SiteQuality
SIO_000300: 1.073e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.984e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.59e-2

GenotypeQuality
all individuals: 154
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1313
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.72951936174353e-5
allele num: 10278
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 19
allele frequency: 2.90519877675841e-4
allele num: 65400
num of homozygotes: 0

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

Latino
type: Population
allele count: 9
allele frequency: 7.8125e-4
allele num: 11520
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13458
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.476e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

DP
type: SiteQuality
SIO_000300: 1.515874e6

MQRankSum
type: SiteQuality
SIO_000300: 6.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

QD
type: SiteQuality
SIO_000300: 1.201e1

VQSLOD
type: SiteQuality
SIO_000300: 4.66e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.77e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.44e-1

GenotypeQuality
all individuals: 170
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1613
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 355
bin: 3.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65394
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10282
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13492
num of homozygotes: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 2.318034306907742e-4
allele num: 8628
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.186e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.79e-1

FS
type: SiteQuality
SIO_000300: 3.1e0

MQRankSum
type: SiteQuality
SIO_000300: 1.08e-1

DP
type: SiteQuality
SIO_000300: 1.516937e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.401e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.49e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.1e0

GenotypeQuality
all individuals: 6682
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45239
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10308
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13940
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.157943492357573e-4
allele num: 8636
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65584
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

DP
type: SiteQuality
SIO_000300: 1.523884e6

VQSLOD
type: SiteQuality
SIO_000300: -2.738e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.43e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.29e0

MQ
type: SiteQuality
SIO_000300: 5.977e1

MQRankSum
type: SiteQuality
SIO_000300: -1.462e0

QD
type: SiteQuality
SIO_000300: 1.136e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.78e-1

FS
type: SiteQuality
SIO_000300: 9.76e-1

GenotypeQuality
all individuals: 406
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1615
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1323
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 1.676011701608971e-4
allele num: 65632
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.094211123723042e-5
allele num: 14096
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.695559433779329e-5
allele num: 10314
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.71e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.23e-1

MQ
type: SiteQuality
SIO_000300: 5.956e1

QD
type: SiteQuality
SIO_000300: 1.213e1

MQRankSum
type: SiteQuality
SIO_000300: 2.08e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.32e-1

DP
type: SiteQuality
SIO_000300: 1.527819e6

FS
type: SiteQuality
SIO_000300: 5.95e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.3e-2

GenotypeQuality
all individuals: 287
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6734
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10330
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.128529698149951e-5
allele num: 65728
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14310
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 9.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.9e-2

FS
type: SiteQuality
SIO_000300: 3.539e0

DP
type: SiteQuality
SIO_000300: 1.531233e6

MQ
type: SiteQuality
SIO_000300: 5.962e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

QD
type: SiteQuality
SIO_000300: 1.453e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.09e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.2e-2

GenotypeQuality
all individuals: 1336
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6818
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 818
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 1
allele frequency: 6.605892456070815e-5
allele num: 15138
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66020
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: -1.129e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.177e0

DP
type: SiteQuality
SIO_000300: 1.545605e6

MQRankSum
type: SiteQuality
SIO_000300: 9.77e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.56e0

QD
type: SiteQuality
SIO_000300: 1.117e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 9.73e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.19e0

GenotypeQuality
all individuals: 6908
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47297
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 4.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15722
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66274
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.61e-1

FS
type: SiteQuality
SIO_000300: 1.262e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.864e0

VQSLOD
type: SiteQuality
SIO_000300: 3.51e-1

MQ
type: SiteQuality
SIO_000300: 5.932e1

QD
type: SiteQuality
SIO_000300: 1.323e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.69e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.43e0

DP
type: SiteQuality
SIO_000300: 1.55861e6

GenotypeQuality
all individuals: 130
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1344
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 5.25e1
variant carriers: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15938
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66360
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 6.55e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.94e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.597e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.076e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.5e-1

DP
type: SiteQuality
SIO_000300: 1.562385e6

GenotypeQuality
all individuals: 6987
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1344
bin: 7.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16138
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.641548565502938e-5
allele num: 11572
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.09e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.21e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.482e0

MQRankSum
type: SiteQuality
SIO_000300: 6.78e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.566592e6

QD
type: SiteQuality
SIO_000300: 1.044e1

GenotypeQuality
all individuals: 190
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 582
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1344
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16138
num of homozygotes: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.019201251993861e-5
allele num: 66454
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.09e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.78e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.044e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.482e0

VQSLOD
type: SiteQuality
SIO_000300: 2.21e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

DP
type: SiteQuality
SIO_000300: 1.566592e6

GenotypeQuality
all individuals: 52
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47984
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 583
bin: 8.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16168
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.641548565502938e-5
allele num: 11572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66458
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
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: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.0e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.74e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.56e-1

QD
type: SiteQuality
SIO_000300: 1.138e1

FS
type: SiteQuality
SIO_000300: 2.995e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.435e0

DP
type: SiteQuality
SIO_000300: 1.566861e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

GenotypeQuality
all individuals: 36
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6995
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16272
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.624639076034648e-5
allele num: 10390
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66488
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: 6592
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.27e0

QD
type: SiteQuality
SIO_000300: 1.783e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

MQ
type: SiteQuality
SIO_000300: 5.666e1

VQSLOD
type: SiteQuality
SIO_000300: -1.235e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.1e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.57e0

DP
type: SiteQuality
SIO_000300: 1.56893e6

GenotypeQuality
all individuals: 587
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 2.25e1
variant carriers: 0

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

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.095330976472023e-5
allele num: 16406
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66548
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.64e0

MQRankSum
type: SiteQuality
SIO_000300: 1.1e0

DP
type: SiteQuality
SIO_000300: 1.57201e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.274e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.999e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.5e0

QD
type: SiteQuality
SIO_000300: 1.177e1

GenotypeQuality
all individuals: 192
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48381
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 823
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 7011
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
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: 11574
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16410
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.502268425322237e-4
allele num: 66566
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.97e1

FS
type: SiteQuality
SIO_000300: 1.741e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.59e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.76e-1

QD
type: SiteQuality
SIO_000300: 1.381e1

DP
type: SiteQuality
SIO_000300: 1.572638e6

VQSLOD
type: SiteQuality
SIO_000300: 8.89e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.679999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.71e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
all individuals: 75
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1354
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502358703163967e-5
allele num: 66562
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
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: 6594
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16422
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.575e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.17e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.771e0

QD
type: SiteQuality
SIO_000300: 1.936e1

MQRankSum
type: SiteQuality
SIO_000300: 1.91e0

DP
type: SiteQuality
SIO_000300: 1.572837e6

ClippingRankSum
type: SiteQuality
SIO_000300: 7.38e-1

GenotypeQuality
all individuals: 48499
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 584
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1673
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.75e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.002732486562772e-5
allele num: 66606
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.900000000000001e-3

QD
type: SiteQuality
SIO_000300: 1.167e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.1e-1

FS
type: SiteQuality
SIO_000300: 8.48e-1

DP
type: SiteQuality
SIO_000300: 1.574501e6

VQSLOD
type: SiteQuality
SIO_000300: 2.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.98e-1

MQ
type: SiteQuality
SIO_000300: 5.919e1

MQRankSum
type: SiteQuality
SIO_000300: -6.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.93e-1

GenotypeQuality
all individuals: 45
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1673
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.25e1
variant carriers: 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: 6586
num of homozygotes: 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: 10392
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 6.951e0

QD
type: SiteQuality
SIO_000300: 1.285e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.509e0

MQRankSum
type: SiteQuality
SIO_000300: -2.01e-1

DP
type: SiteQuality
SIO_000300: 1.574535e6

ClippingRankSum
type: SiteQuality
SIO_000300: 7.3e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 6.55e-1

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

GenotypeQuality
all individuals: 185
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6991
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 811
bin: 9.75e1
variant carriers: 1

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.626492106276473e-5
allele num: 10388
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: 11566
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.49e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

DP
type: SiteQuality
SIO_000300: 1.574397e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.386e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.34e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.86e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.87e-1

QD
type: SiteQuality
SIO_000300: 1.133e1

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

GenotypeQuality
all individuals: 92
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50073536032656e-5
allele num: 66634
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.928e1

DP
type: SiteQuality
SIO_000300: 1.574419e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.63e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.432e0

QD
type: SiteQuality
SIO_000300: 1.116e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 9.7e-2

MQRankSum
type: SiteQuality
SIO_000300: -9.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.66e-1

GenotypeQuality
all individuals: 1318
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6921
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47891
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 8
allele frequency: 7.714561234329798e-4
allele num: 10370
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.003544182134919e-5
allele num: 66588
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: 11556
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.75e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.41e-1

MQ
type: SiteQuality
SIO_000300: 5.964e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.57e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.73e-1

QD
type: SiteQuality
SIO_000300: 1.385e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.102e0

DP
type: SiteQuality
SIO_000300: 1.57195e6

GenotypeQuality
all individuals: 174
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47948
bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501726986033939e-5
allele num: 66590
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16474
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: 11556
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.63e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.98e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.12e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.178e1

FS
type: SiteQuality
SIO_000300: 5.541e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.2e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.9e-2

DP
type: SiteQuality
SIO_000300: 1.571388e6

GenotypeQuality
all individuals: 1613
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 807
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1303
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 9.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.074596039363382e-5
allele num: 16462
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502087902184036e-5
allele num: 66574
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.882e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.23e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.62e0

QD
type: SiteQuality
SIO_000300: 1.339e1

MQRankSum
type: SiteQuality
SIO_000300: 4.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.57151e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.46e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 87
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 560
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1616
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1303
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10358
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6532
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.214919207872676e-4
allele num: 16462
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.157943492357573e-4
allele num: 8636
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502313562886846e-5
allele num: 66564
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.507e0

MQRankSum
type: SiteQuality
SIO_000300: 5.679999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.570203e6

VQSLOD
type: SiteQuality
SIO_000300: 1.24e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.12e-1

MQ
type: SiteQuality
SIO_000300: 5.913e1

QD
type: SiteQuality
SIO_000300: 1.469e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.84e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
all individuals: 556
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47878
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1298
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10360
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16454
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.005710850616171e-5
allele num: 66540
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.4e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e0

DP
type: SiteQuality
SIO_000300: 1.568732e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.233e0

MQRankSum
type: SiteQuality
SIO_000300: 8.24e-1

QD
type: SiteQuality
SIO_000300: 1.38e1

VQSLOD
type: SiteQuality
SIO_000300: 5.16e-1

FS
type: SiteQuality
SIO_000300: 6.513e0

GenotypeQuality
all individuals: 1592
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1293
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6878
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 800
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10360
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66522
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.077549532028686e-5
allele num: 16454
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.567464e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.71e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.44e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e0

MQRankSum
type: SiteQuality
SIO_000300: -5.83e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.51e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 195
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 796
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 104
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6786
bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506341698550899e-5
allele num: 66386
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.0960741282614e-5
allele num: 16404
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6468
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.562848e6

FS
type: SiteQuality
SIO_000300: 1.203e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.524e0

QD
type: SiteQuality
SIO_000300: 1.32e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.74e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -4.5e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.53e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.929999999999999e-1

GenotypeQuality
all individuals: 200
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1552
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 870
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6428
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507658907248824e-5
allele num: 66328
num of homozygotes: 0

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 2.97e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.372e0

VQSLOD
type: SiteQuality
SIO_000300: 6.3e-1

DP
type: SiteQuality
SIO_000300: 1.559367e6

MQ
type: SiteQuality
SIO_000300: 5.972e1

QD
type: SiteQuality
SIO_000300: 1.13e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.629e0

FS
type: SiteQuality
SIO_000300: 3.646e0

MQRankSum
type: SiteQuality
SIO_000300: -3.41e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
all individuals: 47258
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6714
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 265
bin: 5.25e1
variant carriers: 0

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

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

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.112469437652811e-5
allele num: 16360
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508295625942685e-5
allele num: 66300
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.08e0

DP
type: SiteQuality
SIO_000300: 1.559126e6

MQRankSum
type: SiteQuality
SIO_000300: -7.67e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.68e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.09e0

FS
type: SiteQuality
SIO_000300: 3.408e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.68e-1

MQ
type: SiteQuality
SIO_000300: 5.934e1

GenotypeQuality
all individuals: 278
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 529
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1239
bin: 7.75e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509388395822013e-5
allele num: 66252
num of homozygotes: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.116071428571429e-3
allele num: 896
num of homozygotes: 0

South Asian
type: Population
allele count: 9
allele frequency: 5.516057857317971e-4
allele num: 16316
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.55639e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.919999999999999e-1

FS
type: SiteQuality
SIO_000300: 3.765e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.13e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 1.077e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.82e0

GenotypeQuality
all individuals: 238
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1206
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1482
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10272
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6342
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16210
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66086
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.733624454148471e-5
allele num: 11450
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.219e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.548746e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.9e-2

QD
type: SiteQuality
SIO_000300: 1.728e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.2e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.24e-1

GenotypeQuality
all individuals: 166
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1193
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1464
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10260
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11428
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514921981517952e-5
allele num: 66010
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6302
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16096
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.816e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.299999999999999e-3

MQ
type: SiteQuality
SIO_000300: 5.882e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.29e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.06e-1

DP
type: SiteQuality
SIO_000300: 1.544536e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.28e-1

QD
type: SiteQuality
SIO_000300: 1.882e1

MQRankSum
type: SiteQuality
SIO_000300: 6.35e-1

FS
type: SiteQuality
SIO_000300: 4.231e0

GenotypeQuality
all individuals: 161
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1181
bin: 7.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515794579518584e-5
allele num: 65972
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10260
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11420
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16082
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.556e1

VQSLOD
type: SiteQuality
SIO_000300: -5.463e-1

FS
type: SiteQuality
SIO_000300: 1.788e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

MQ
type: SiteQuality
SIO_000300: 5.882e1

MQRankSum
type: SiteQuality
SIO_000300: 1.06e-1

DP
type: SiteQuality
SIO_000300: 1.543163e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.588e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.14e0

GenotypeQuality
all individuals: 1444
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46389
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 784
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 191
bin: 4.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10260
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11420
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16082
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515794579518584e-5
allele num: 65972
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.543163e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

VQSLOD
type: SiteQuality
SIO_000300: -5.463e-1

FS
type: SiteQuality
SIO_000300: 1.788e0

QD
type: SiteQuality
SIO_000300: 1.556e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.588e0

MQ
type: SiteQuality
SIO_000300: 5.882e1

MQRankSum
type: SiteQuality
SIO_000300: 1.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.14e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

GenotypeQuality
all individuals: 307
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45457
bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.043862052171795e-5
allele num: 65706
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6220
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.79431929480901e-5
allele num: 10210
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15866
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 7.12e0

DP
type: SiteQuality
SIO_000300: 1.531786e6

MQRankSum
type: SiteQuality
SIO_000300: 2.7e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.151e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.84e-1

FS
type: SiteQuality
SIO_000300: 2.972e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.11e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-3

GenotypeQuality
all individuals: 378
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 774
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3582
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 508
bin: 3.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65140
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.879470460383324e-5
allele num: 10122
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6122
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15444
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.55e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.29e0

QD
type: SiteQuality
SIO_000300: 1.318e1

FS
type: SiteQuality
SIO_000300: 1.779e0

MQRankSum
type: SiteQuality
SIO_000300: -6.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

VQSLOD
type: SiteQuality
SIO_000300: -7.131e-1

MQ
type: SiteQuality
SIO_000300: 5.873e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.15e-1

DP
type: SiteQuality
SIO_000300: 1.508003e6

GenotypeQuality
all individuals: 1201
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 701
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 7.5e0
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.551494088807522e-5
allele num: 64454
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9994
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.669449081803005e-4
allele num: 5990
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15016
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.82e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.600000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.69e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.48e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.313e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

DP
type: SiteQuality
SIO_000300: 1.479248e6

GenotypeQuality
all individuals: 656
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 326
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1182
bin: 2.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8320
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5722
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14210
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9748
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62962
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 832
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.274717121127805e-5
allele num: 10782
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.67e0

MQRankSum
type: SiteQuality
SIO_000300: 4.52e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.256e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.26e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.021e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.88e-1

DP
type: SiteQuality
SIO_000300: 1.411457e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

QD
type: SiteQuality
SIO_000300: 1.796e1

GenotypeQuality
all individuals: 361
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 824
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35877
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 305
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5538
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8124
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10532
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9528
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.336757153338224e-5
allele num: 13630
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61718
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 812
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.361139e6

QD
type: SiteQuality
SIO_000300: 5.88e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.49e0

MQRankSum
type: SiteQuality
SIO_000300: 8.47e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.05e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.59e-1

MQ
type: SiteQuality
SIO_000300: 6.074e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

GenotypeQuality
all individuals: 757
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 324
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35451
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10496
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8098
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9492
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13466
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 812
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5502
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.254149040026033e-5
allele num: 61460
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.16e0

FS
type: SiteQuality
SIO_000300: 5.17e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.42e-1

QD
type: SiteQuality
SIO_000300: 1.396e1

MQRankSum
type: SiteQuality
SIO_000300: 1.68e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.77e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.983e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

DP
type: SiteQuality
SIO_000300: 1.351878e6

GenotypeQuality
all individuals: 4435
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1957
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 280
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7956
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 5.328218243819267e-4
allele num: 9384
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13168
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 802
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5398
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60528
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.759906304899473e-5
allele num: 10246
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.49e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.310505e6

VQSLOD
type: SiteQuality
SIO_000300: 2.52e0

FS
type: SiteQuality
SIO_000300: 1.101e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.3e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 5.38e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.97e0

GenotypeQuality
all individuals: 353
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 586
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 266
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 295
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12802
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59700
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7832
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 790
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10070
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.079447322970639e-4
allele num: 9264
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5308
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.128e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.376e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -5.006e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

QD
type: SiteQuality
SIO_000300: 1.373e1

FS
type: SiteQuality
SIO_000300: 7.877e0

MQRankSum
type: SiteQuality
SIO_000300: 1.79e0

DP
type: SiteQuality
SIO_000300: 1.279085e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

GenotypeQuality
all individuals: 428
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 490
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 746
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9460
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56818
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7396
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4956
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 752
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.120071684587814e-4
allele num: 8928
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11910
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.483e0

DP
type: SiteQuality
SIO_000300: 1.142119e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.62e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.453e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.25e0

MQRankSum
type: SiteQuality
SIO_000300: -5.83e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.14e-1

GenotypeQuality
all individuals: 123
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 433
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8708
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 728
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54912
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7104
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4720
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.111605157847932e-4
allele num: 8996
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.051742e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.84e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.21e0

MQRankSum
type: SiteQuality
SIO_000300: 3.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

FS
type: SiteQuality
SIO_000300: 2.645e0

VQSLOD
type: SiteQuality
SIO_000300: -1.497e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

QD
type: SiteQuality
SIO_000300: 5.07e0

GenotypeQuality
all individuals: 1536
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17804
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 451
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4682
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7048
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8664
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.830898238675894e-5
allele num: 54618
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8940
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11140
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 720
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 2.579e1

VQSLOD
type: SiteQuality
SIO_000300: -1.473e0

MQRankSum
type: SiteQuality
SIO_000300: 7.65e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

DP
type: SiteQuality
SIO_000300: 1.036475e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.487e0

GenotypeQuality
all individuals: 404
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2205
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 462
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8736
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8558
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4572
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 694
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.588673621460507e-5
allele num: 53680
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6920
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10696
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 5.1e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -6.889999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.85e0

QD
type: SiteQuality
SIO_000300: 1.069e1

DP
type: SiteQuality
SIO_000300: 1.002665e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.28e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.26e-1

GenotypeQuality
all individuals: 1922
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 691
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5643
bin: 7.5e0
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5442
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 554
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.289796666056054e-5
allele num: 43672
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7106
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7678
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3412
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.06e-2

DP
type: SiteQuality
SIO_000300: 7.3986e5

VQSLOD
type: SiteQuality
SIO_000300: -6.179e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.65e-1

QD
type: SiteQuality
SIO_000300: 1.605e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.15e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.222e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.25e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 76
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3270
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3194
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 41462
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6026
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.460280373831776e-4
allele num: 6848
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5132
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 518
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.42e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.28e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.699e0

QD
type: SiteQuality
SIO_000300: 9.619999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: 4.9e-1

FS
type: SiteQuality
SIO_000300: 3.526e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 7.11601e5

BaseQRankSum
type: SiteQuality
SIO_000300: -3.512e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.28e-2

GenotypeQuality
all individuals: 1589
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 772
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4398
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 408
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34288
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4040
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2492
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5914
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 3.723008190618019e-4
allele num: 5372
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 6.55251e5

ClippingRankSum
type: SiteQuality
SIO_000300: -3.82e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.325e0

MQRankSum
type: SiteQuality
SIO_000300: 1.53e0

VQSLOD
type: SiteQuality
SIO_000300: -6.922e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.82e-2

FS
type: SiteQuality
SIO_000300: 3.832e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.659999999999999e-1

QD
type: SiteQuality
SIO_000300: 7.88e0

GenotypeQuality
all individuals: 445
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2300
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 189
bin: 7.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3894
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4280
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 390
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.723543605653223e-4
allele num: 5802
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5156
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 35
allele frequency: 1.042783935168633e-3
allele num: 33564
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 4.108463434675431e-4
allele num: 2434
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.768e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e-1

FS
type: SiteQuality
SIO_000300: 9.379999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.86e-2

DP
type: SiteQuality
SIO_000300: 6.47558e5

MQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

QD
type: SiteQuality
SIO_000300: 1.215e1

VQSLOD
type: SiteQuality
SIO_000300: 3.63e0

GenotypeQuality
all individuals: 1724
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 742
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 105
bin: 9.25e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5206
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4302
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 390
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5818
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 33542
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2462
num of homozygotes: 0

East Asian
type: Population
allele count: 6
allele frequency: 1.530612244897959e-3
allele num: 3920
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.17e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.5e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.52e0

QD
type: SiteQuality
SIO_000300: 1.436e1

DP
type: SiteQuality
SIO_000300: 6.45607e5

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.9e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.85e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.96e-1

GenotypeQuality
all individuals: 5021
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 281
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32848
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4130
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3772
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5722
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5008
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 2.702702702702703e-3
allele num: 370
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2402
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -9.827e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.88e-2

MQRankSum
type: SiteQuality
SIO_000300: -6.78e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 6.41811e5

ClippingRankSum
type: SiteQuality
SIO_000300: -1.581e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.65e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.13e0

FS
type: SiteQuality
SIO_000300: 2.066e0

QD
type: SiteQuality
SIO_000300: 1.835e1

GenotypeQuality
all individuals: 300
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4128
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1039
bin: 1.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8000
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.656177542232527e-5
allele num: 60380
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10916
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6128
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12418
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.68e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.07e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.46e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.07e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

DP
type: SiteQuality
SIO_000300: 1.17696e6

QD
type: SiteQuality
SIO_000300: 1.05e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.38e0

GenotypeQuality
all individuals: 499
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 271
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 807
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8076
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10958
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.370042660767894e-4
allele num: 12658
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 790
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6154
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.935346954890929e-5
allele num: 60786
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8662
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.54e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.17e-1

FS
type: SiteQuality
SIO_000300: 1.8327e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.13e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.326e1

MQRankSum
type: SiteQuality
SIO_000300: -3.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.386e0

DP
type: SiteQuality
SIO_000300: 1.248698e6

GenotypeQuality
all individuals: 3372
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 565
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2916
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8662
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6154
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 790
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.238236750866766e-4
allele num: 8076
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12658
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10958
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60786
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.8327e1

VQSLOD
type: SiteQuality
SIO_000300: -2.386e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.13e-1

QD
type: SiteQuality
SIO_000300: 1.326e1

MQRankSum
type: SiteQuality
SIO_000300: -3.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.54e0

DP
type: SiteQuality
SIO_000300: 1.248698e6

GenotypeQuality
all individuals: 1989
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 565
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6164
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8108
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 790
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12744
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8700
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.639129294518752e-5
allele num: 61008
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.84e0

MQRankSum
type: SiteQuality
SIO_000300: 1.38e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.971e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.656e0

DP
type: SiteQuality
SIO_000300: 1.27004e6

MQ
type: SiteQuality
SIO_000300: 5.94e1

QD
type: SiteQuality
SIO_000300: 1.286e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.601e0

GenotypeQuality
all individuals: 822
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 785
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1882
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11036
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.148369315571888e-4
allele num: 8708
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12758
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61144
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6182
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.021e0

MQ
type: SiteQuality
SIO_000300: 5.83e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.41e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.748e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.38e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.25e-1

FS
type: SiteQuality
SIO_000300: 4.313e0

DP
type: SiteQuality
SIO_000300: 1.280625e6

QD
type: SiteQuality
SIO_000300: 1.621e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3