12-88472834-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88472834
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88472833
    reference: chr 12
allele count: 21
allele frequency: 2.768549280177187e-4
allele num: 75852
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.5364+34delT
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000380938
  ensembl transcript: ENST00000397838
  gene symbol: CEP290
  hgvsc: ENST00000397838.3:c.2544+34delT
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.5370+34delT
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000446905
  ensembl transcript: ENST00000547691
  gene symbol: CEP290
  hgvsc: ENST00000547691.2:c.2544+34delT
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4154
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17589
  bin: 1.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2432
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2754
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19573
  bin: 7.5e0
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 9030
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1584
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5215
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7714
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2038
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 7.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1180
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1708
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1260
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5185
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9908
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17880
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1408
  bin: 4.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
reference allele: GA
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: MQ

12-88472846-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88472846
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88472846
    reference: chr 12
allele count: 2
allele frequency: 2.542459066409031e-5
allele num: 78664
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.5364+23G>A
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.5370+23G>A
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000446905
  ensembl transcript: ENST00000547691
  gene symbol: CEP290
  hgvsc: ENST00000547691.2:c.2544+23G>A
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000380938
  ensembl transcript: ENST00000397838
  gene symbol: CEP290
  hgvsc: ENST00000397838.3:c.2544+23G>A
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15709
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2192
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19432
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13414
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3356
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2089
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1161
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16346
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6071
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2401
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4543
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18856
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 798
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

12-88472848-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88472848
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88472848
    reference: chr 12
allele count: 5
allele frequency: 6.267549137585239e-5
allele num: 79776
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000446905
  ensembl transcript: ENST00000547691
  gene symbol: CEP290
  hgvsc: ENST00000547691.2:c.2544+21A>C
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000380938
  ensembl transcript: ENST00000397838
  gene symbol: CEP290
  hgvsc: ENST00000397838.3:c.2544+21A>C
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.5364+21A>C
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.5370+21A>C
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19197
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12673
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2011
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3460
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16866
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1025
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5695
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18655
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 743
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4363
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2926
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 718
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2413
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 16907
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

12-88472854-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88472854
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88472854
    reference: chr 12
allele count: 1
allele frequency: 1.196859440827269e-5
allele num: 83552
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.5364+15G>C
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000380938
  ensembl transcript: ENST00000397838
  gene symbol: CEP290
  hgvsc: ENST00000397838.3:c.2544+15G>C
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000446905
  ensembl transcript: ENST00000547691
  gene symbol: CEP290
  hgvsc: ENST00000547691.2:c.2544+15G>C
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.5370+15G>C
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4014
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21638
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9613
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17600
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1746
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 718
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4216
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2434
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22315
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3556
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1992
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2424
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

12-88472854-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88472854
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88472854
    reference: chr 12
allele count: 1
allele frequency: 1.196859440827269e-5
allele num: 83552
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.5364+15G>A
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.5370+15G>A
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000380938
  ensembl transcript: ENST00000397838
  gene symbol: CEP290
  hgvsc: ENST00000397838.3:c.2544+15G>A
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000446905
  ensembl transcript: ENST00000547691
  gene symbol: CEP290
  hgvsc: ENST00000547691.2:c.2544+15G>A
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17600
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1746
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4014
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9613
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21638
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17581
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22315
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3556
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4216
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 718
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 805
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1992
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2434
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

12-88472855-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88472855
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88472855
    reference: chr 12
allele count: 24
allele frequency: 2.832192589096059e-4
allele num: 84740
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000380938
  ensembl transcript: ENST00000397838
  gene symbol: CEP290
  hgvsc: ENST00000397838.3:c.2544+14C>T
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000446905
  ensembl transcript: ENST00000547691
  gene symbol: CEP290
  hgvsc: ENST00000547691.2:c.2544+14C>T
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.5364+14C>T
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.5370+14C>T
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22707
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4127
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17109
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8971
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1514
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23497
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
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genotype quality: GenotypeQuality
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 488
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3377
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17182
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2450
  bin: 9.75e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 2530
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1830
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 659
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 835
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 4.75e1
  variant carriers: 1
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

12-88472864-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88472864
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88472864
    reference: chr 12
allele count: 2
allele frequency: 2.190964462556417e-5
allele num: 91284
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000380938
  ensembl transcript: ENST00000397838
  gene symbol: CEP290
  hgvsc: ENST00000397838.3:c.2544+5A>G
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000446905
  ensembl transcript: ENST00000547691
  gene symbol: CEP290
  hgvsc: ENST00000547691.2:c.2544+5A>G
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.5370+5A>G
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.5364+5A>G
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1949
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14273
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28087
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6130
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4724
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 567
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 821
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 154
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28778
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 290
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 262
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genotype quality: GenotypeQuality
  all individuals: 1186
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 494
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2328
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2557
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 926
  bin: 7.75e1
  variant carriers: 0
hgvs: c.5364+5A>G
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: ClippingRankSum

12-88472866-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88472866
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88472866
    reference: chr 12
allele count: 11
allele frequency: 1.190914405733711e-4
allele num: 92366
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000380938
  ensembl transcript: ENST00000397838
  gene symbol: CEP290
  hgvsc: ENST00000397838.3:c.2544+3G>A
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.5370+3G>A
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000446905
  ensembl transcript: ENST00000547691
  gene symbol: CEP290
  hgvsc: ENST00000547691.2:c.2544+3G>A
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.5364+3G>A
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5819
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4917
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2018
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28730
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13677
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 814
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2906
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29312
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
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genotype quality: GenotypeQuality
  all individuals: 2442
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 828
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 940
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2447
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14029
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 1.75e1
  variant carriers: 0
hgvs: c.5364+3G>A
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP

12-88472877-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88472877
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88472877
    reference: chr 12
allele count: 1
allele frequency: 1.009509580245917e-5
allele num: 99058
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000446905
  ensembl transcript: ENST00000547691
  gene symbol: CEP290
  hgvsc: ENST00000547691.2:c.2536G>A
  hgvsp: ENSP00000446905.1:p.Glu846Lys
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000380938
  ensembl transcript: ENST00000397838
  gene symbol: CEP290
  hgvsc: ENST00000397838.3:c.2536G>A
  hgvsp: ENSP00000380938.3:p.Glu846Lys
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.5362G>A
  hgvsp: ENSP00000308021.7:p.Glu1788Lys
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.5356G>A
  hgvsp: ENSP00000448012.1:p.Glu1786Lys
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4193
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32236
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5877
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10518
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2197
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33397
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 937
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 892
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1753
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 924
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1645
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10964
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2466
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu1786Lys
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: African
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff

12-88472880-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88472880
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88472880
    reference: chr 12
allele count: 1
allele frequency: 9.937591922725285e-6
allele num: 100628
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000380938
  ensembl transcript: ENST00000397838
  gene symbol: CEP290
  hgvsc: ENST00000397838.3:c.2533A>G
  hgvsp: ENSP00000380938.3:p.Arg845Gly
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.5353A>G
  hgvsp: ENSP00000448012.1:p.Arg1785Gly
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.5359A>G
  hgvsp: ENSP00000308021.7:p.Arg1787Gly
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000446905
  ensembl transcript: ENST00000547691
  gene symbol: CEP290
  hgvsc: ENST00000547691.2:c.2533A>G
  hgvsp: ENSP00000446905.1:p.Arg845Gly
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9766
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2240
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6097
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32986
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1637
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3875
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1073
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 957
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 877
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10235
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1528
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1625
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3339
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34279
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg1785Gly
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: DP

12-88472883-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88472883
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88472883
    reference: chr 12
allele count: 1
allele frequency: 9.803344901280317e-6
allele num: 102006
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.5350A>T
  hgvsp: ENSP00000448012.1:p.Thr1784Ser
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.5356A>T
  hgvsp: ENSP00000308021.7:p.Thr1786Ser
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000446905
  ensembl transcript: ENST00000547691
  gene symbol: CEP290
  hgvsc: ENST00000547691.2:c.2530A>T
  hgvsp: ENSP00000446905.1:p.Thr844Ser
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000380938
  ensembl transcript: ENST00000397838
  gene symbol: CEP290
  hgvsc: ENST00000397838.3:c.2530A>T
  hgvsp: ENSP00000380938.3:p.Thr844Ser
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2277
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3604
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6378
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33505
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34857
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 863
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 990
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 945
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 663
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1447
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1536
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9585
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3410
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Thr1784Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum

12-88472889-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88472889
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88472889
    reference: chr 12
allele count: 2
allele frequency: 1.921266498876059e-5
allele num: 104098
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000446905
  ensembl transcript: ENST00000547691
  gene symbol: CEP290
  hgvsc: ENST00000547691.2:c.2524C>T
  hgvsp: ENSP00000446905.1:p.Arg842Ter
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000380938
  ensembl transcript: ENST00000397838
  gene symbol: CEP290
  hgvsc: ENST00000397838.3:c.2524C>T
  hgvsp: ENSP00000380938.3:p.Arg842Ter
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.5344C>T
  hgvsp: ENSP00000448012.1:p.Arg1782Ter
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.5350C>T
  hgvsp: ENSP00000308021.7:p.Arg1784Ter
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2050
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33779
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2465
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8031
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3268
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7036
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8564
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 799
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1374
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1125
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3561
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1040
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1083
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 934
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg1782Ter
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

12-88472892-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88472892
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88472892
    reference: chr 12
allele count: 1
allele frequency: 9.498480243161095e-6
allele num: 105280
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.5347G>C
  hgvsp: ENSP00000308021.7:p.Asp1783His
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.5341G>C
  hgvsp: ENSP00000448012.1:p.Asp1781His
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000446905
  ensembl transcript: ENST00000547691
  gene symbol: CEP290
  hgvsc: ENST00000547691.2:c.2521G>C
  hgvsp: ENSP00000446905.1:p.Asp841His
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000380938
  ensembl transcript: ENST00000397838
  gene symbol: CEP290
  hgvsc: ENST00000397838.3:c.2521G>C
  hgvsp: ENSP00000380938.3:p.Asp841His
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7480
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3089
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2497
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7264
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34202
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1072
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1279
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1389
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 797
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1042
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 898
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1154
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8007
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asp1781His
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum

12-88472895-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88472895
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88472895
    reference: chr 12
allele count: 14
allele frequency: 1.317820701080613e-4
allele num: 106236
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000380938
  ensembl transcript: ENST00000397838
  gene symbol: CEP290
  hgvsc: ENST00000397838.3:c.2518G>A
  hgvsp: ENSP00000380938.3:p.Val840Ile
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.5338G>A
  hgvsp: ENSP00000448012.1:p.Val1780Ile
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000446905
  ensembl transcript: ENST00000547691
  gene symbol: CEP290
  hgvsc: ENST00000547691.2:c.2518G>A
  hgvsp: ENSP00000446905.1:p.Val840Ile
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.5344G>A
  hgvsp: ENSP00000308021.7:p.Val1782Ile
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7016
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34461
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2198
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7480
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2939
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2551
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2485
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 1224
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 989
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 902
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1170
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7570
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3725
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 771
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36318
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1091
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Val1780Ile
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum

12-88472899-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88472899
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88472899
    reference: chr 12
allele count: 1
allele frequency: 9.283327144448571e-6
allele num: 107720
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000446905
  ensembl transcript: ENST00000547691
  gene symbol: CEP290
  hgvsc: ENST00000547691.2:c.2514A>G
  hgvsp: ENST00000547691.2:c.2514A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.5334A>G
  hgvsp: ENST00000552810.1:c.5334A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.5340A>G
  hgvsp: ENST00000309041.7:c.5340A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000380938
  ensembl transcript: ENST00000397838
  gene symbol: CEP290
  hgvsc: ENST00000397838.3:c.2514A>G
  hgvsp: ENST00000397838.3:c.2514A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2564
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6330
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34705
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2739
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7827
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2488
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2474
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1275
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 856
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 704
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 948
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6925
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1155
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1147
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1213
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1125
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35961
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gln1778Gln
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

12-88472904-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88472904
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88472904
    reference: chr 12
allele count: 1
allele frequency: 9.194725905220765e-6
allele num: 108758
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000380938
  ensembl transcript: ENST00000397838
  gene symbol: CEP290
  hgvsc: ENST00000397838.3:c.2509C>T
  hgvsp: ENSP00000380938.3:p.Gln837Ter
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.5329C>T
  hgvsp: ENSP00000448012.1:p.Gln1777Ter
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.5335C>T
  hgvsp: ENSP00000308021.7:p.Gln1779Ter
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000446905
  ensembl transcript: ENST00000547691
  gene symbol: CEP290
  hgvsc: ENST00000547691.2:c.2509C>T
  hgvsp: ENSP00000446905.1:p.Gln837Ter
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2542
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8119
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5790
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34896
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2677
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2621
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1211
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36988
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6409
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 976
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1246
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2474
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 921
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1108
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3900
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1095
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gln1777Ter
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-88472911-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88472911
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88472911
    reference: chr 12
allele count: 386
allele frequency: 3.503548931689872e-3
allele num: 110174
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000446905
  ensembl transcript: ENST00000547691
  gene symbol: CEP290
  hgvsc: ENST00000547691.2:c.2502C>T
  hgvsp: ENST00000547691.2:c.2502C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.5328C>T
  hgvsp: ENST00000309041.7:c.5328C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.5322C>T
  hgvsp: ENST00000552810.1:c.5322C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000380938
  ensembl transcript: ENST00000397838
  gene symbol: CEP290
  hgvsc: ENST00000397838.3:c.2502C>T
  hgvsp: ENST00000397838.3:c.2502C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 4.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 34878
  bin: 2.25e1
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 5087
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2823
  bin: 1.75e1
  variant carriers: 57
genotype depth: GenotypeDepth
  all individuals: 2787
  bin: 3.25e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2437
  bin: 1.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 3.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 4.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 8537
  bin: 2.75e1
  variant carriers: 63
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 9.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 902
  bin: 5.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1229
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1182
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1029
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37471
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5740
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2817
  bin: 9.75e1
  variant carriers: 373
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1042
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1230
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1011
  bin: 4.75e1
  variant carriers: 1
hgvs: p.Leu1774Leu
num of homozygotes: 1
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

12-88472922-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88472922
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88472922
    reference: chr 12
allele count: 3
allele frequency: 2.682595321553759e-5
allele num: 111832
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.5317G>A
  hgvsp: ENSP00000308021.7:p.Glu1773Lys
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000380938
  ensembl transcript: ENST00000397838
  gene symbol: CEP290
  hgvsc: ENST00000397838.3:c.2491G>A
  hgvsp: ENSP00000380938.3:p.Glu831Lys
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.5311G>A
  hgvsp: ENSP00000448012.1:p.Glu1771Lys
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000446905
  ensembl transcript: ENST00000547691
  gene symbol: CEP290
  hgvsc: ENST00000547691.2:c.2491G>A
  hgvsp: ENSP00000446905.1:p.Glu831Lys
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3239
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2278
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4262
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33909
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3039
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9869
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 767
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1236
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1690
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1421
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1225
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1298
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 737
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 982
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2499
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 4188
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1215
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Glu1771Lys
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

12-88472923-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88472923
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88472923
    reference: chr 12
allele count: 1
allele frequency: 8.92889031751134e-6
allele num: 111996
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000446905
  ensembl transcript: ENST00000547691
  gene symbol: CEP290
  hgvsc: ENST00000547691.2:c.2490A>G
  hgvsp: ENST00000547691.2:c.2490A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.5316A>G
  hgvsp: ENST00000309041.7:c.5316A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.5310A>G
  hgvsp: ENST00000552810.1:c.5310A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000380938
  ensembl transcript: ENST00000397838
  gene symbol: CEP290
  hgvsc: ENST00000397838.3:c.2490A>G
  hgvsp: ENST00000397838.3:c.2490A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3225
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4213
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3049
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9938
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33930
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2241
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 968
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4216
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1233
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1443
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36858
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1196
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2498
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1700
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 740
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Lys1770Lys
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

12-88472948-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88472948
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88472948
    reference: chr 12
allele count: 1
allele frequency: 8.56384345294168e-6
allele num: 116770
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.5285G>A
  hgvsp: ENSP00000448012.1:p.Arg1762His
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.5291G>A
  hgvsp: ENSP00000308021.7:p.Arg1764His
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000446905
  ensembl transcript: ENST00000547691
  gene symbol: CEP290
  hgvsc: ENST00000547691.2:c.2465G>A
  hgvsp: ENSP00000446905.1:p.Arg822His
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000380938
  ensembl transcript: ENST00000397838
  gene symbol: CEP290
  hgvsc: ENST00000397838.3:c.2465G>A
  hgvsp: ENSP00000380938.3:p.Arg822His
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1879
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3622
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36773
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12133
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1349
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1414
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4778
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2386
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg1762His
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP

12-88472949-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88472949
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88472949
    reference: chr 12
allele count: 3
allele frequency: 2.564058734038734e-5
allele num: 117002
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000446905
  ensembl transcript: ENST00000547691
  gene symbol: CEP290
  hgvsc: ENST00000547691.2:c.2464C>T
  hgvsp: ENSP00000446905.1:p.Arg822Cys
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000380938
  ensembl transcript: ENST00000397838
  gene symbol: CEP290
  hgvsc: ENST00000397838.3:c.2464C>T
  hgvsp: ENSP00000380938.3:p.Arg822Cys
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.5284C>T
  hgvsp: ENSP00000448012.1:p.Arg1762Cys
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.5290C>T
  hgvsp: ENSP00000308021.7:p.Arg1764Cys
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12209
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1784
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3622
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36947
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1372
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2276
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44128
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4817
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg1762Cys
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD

12-88472950-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88472950
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88472950
    reference: chr 12
allele count: 2
allele frequency: 1.707329565826092e-5
allele num: 117142
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.5289A>G
  hgvsp: ENST00000309041.7:c.5289A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.5283A>G
  hgvsp: ENST00000552810.1:c.5283A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000380938
  ensembl transcript: ENST00000397838
  gene symbol: CEP290
  hgvsc: ENST00000397838.3:c.2463A>G
  hgvsp: ENST00000397838.3:c.2463A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000446905
  ensembl transcript: ENST00000547691
  gene symbol: CEP290
  hgvsc: ENST00000547691.2:c.2463A>G
  hgvsp: ENST00000547691.2:c.2463A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37093
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1727
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3617
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12234
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44365
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1442
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2506
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 812
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2213
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1380
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4855
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Glu1761Glu
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

12-88472959-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88472959
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88472959
    reference: chr 12
allele count: 1
allele frequency: 8.490117503226245e-6
allele num: 117784
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000380938
  ensembl transcript: ENST00000397838
  gene symbol: CEP290
  hgvsc: ENST00000397838.3:c.2454T>C
  hgvsp: ENST00000397838.3:c.2454T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.5274T>C
  hgvsp: ENST00000552810.1:c.5274T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000446905
  ensembl transcript: ENST00000547691
  gene symbol: CEP290
  hgvsc: ENST00000547691.2:c.2454T>C
  hgvsp: ENST00000547691.2:c.2454T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.5280T>C
  hgvsp: ENST00000309041.7:c.5280T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3735
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37286
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1425
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12594
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1881
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2504
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4980
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1490
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1407
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala1758Ala
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: DP

12-88472960-G-GAAATGA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88472960
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88472966
    reference: chr 12
allele count: 1
allele frequency: 8.485938799409379e-6
allele num: 117842
alternate allele: GAAATGA
annotation: Annotation
  canonical: true
  consequence: protein_altering_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.5272_5273insTCATTT
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: protein_altering_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000380938
  ensembl transcript: ENST00000397838
  gene symbol: CEP290
  hgvsc: ENST00000397838.3:c.2452_2453insTCATTT
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: protein_altering_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.5278_5279insTCATTT
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: protein_altering_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000446905
  ensembl transcript: ENST00000547691
  gene symbol: CEP290
  hgvsc: ENST00000547691.2:c.2452_2453insTCATTT
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: protein altering
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37327
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3770
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12612
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1843
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1490
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1404
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4977
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44964
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 820
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala1758delinsValIleSer
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/12-88472961-C-CA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88472961
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88472962
    reference: chr 12
allele count: 1
allele frequency: 8.48032564450475e-6
allele num: 117920
alternate allele: CA
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.5277_5278insT
  hgvsp: ENSP00000308021.7:p.Ala1760CysfsTer3
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.5271_5272insT
  hgvsp: ENSP00000448012.1:p.Ala1758CysfsTer3
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000446905
  ensembl transcript: ENST00000547691
  gene symbol: CEP290
  hgvsc: ENST00000547691.2:c.2451_2452insT
  hgvsp: ENSP00000446905.1:p.Ala818CysfsTer3
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000380938
  ensembl transcript: ENST00000397838
  gene symbol: CEP290
  hgvsc: ENST00000397838.3:c.2451_2452insT
  hgvsp: ENSP00000380938.3:p.Ala818CysfsTer3
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 3777
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37345
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12665
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 822
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1491
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4991
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2504
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1796
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1413
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala1758CysfsTer3
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: FS

12-88472962-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88472962
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88472962
    reference: chr 12
allele count: 1
allele frequency: 8.474145382438182e-6
allele num: 118006
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000446905
  ensembl transcript: ENST00000547691
  gene symbol: CEP290
  hgvsc: ENST00000547691.2:c.2451A>C
  hgvsp: ENST00000547691.2:c.2451A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000380938
  ensembl transcript: ENST00000397838
  gene symbol: CEP290
  hgvsc: ENST00000397838.3:c.2451A>C
  hgvsp: ENST00000397838.3:c.2451A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.5271A>C
  hgvsp: ENST00000552810.1:c.5271A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.5277A>C
  hgvsp: ENST00000309041.7:c.5277A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12700
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37328
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3765
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1417
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 824
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5004
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1500
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1774
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala1757Ala
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

12-88472969-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88472969
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88472969
    reference: chr 12
allele count: 1
allele frequency: 8.451942256330504e-6
allele num: 118316
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000446905
  ensembl transcript: ENST00000547691
  gene symbol: CEP290
  hgvsc: ENST00000547691.2:c.2444T>A
  hgvsp: ENSP00000446905.1:p.Met815Lys
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000380938
  ensembl transcript: ENST00000397838
  gene symbol: CEP290
  hgvsc: ENST00000397838.3:c.2444T>A
  hgvsp: ENSP00000380938.3:p.Met815Lys
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.5264T>A
  hgvsp: ENSP00000448012.1:p.Met1755Lys
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.5270T>A
  hgvsp: ENSP00000308021.7:p.Met1757Lys
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37274
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12952
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3839
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1654
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45279
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1508
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5065
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 834
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Met1755Lys
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: InbreedingCoeff

12-88472977-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88472977
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88472977
    reference: chr 12
allele count: 1
allele frequency: 8.440670526866655e-6
allele num: 118474
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000446905
  ensembl transcript: ENST00000547691
  gene symbol: CEP290
  hgvsc: ENST00000547691.2:c.2436G>A
  hgvsp: ENST00000547691.2:c.2436G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.5256G>A
  hgvsp: ENST00000552810.1:c.5256G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.5262G>A
  hgvsp: ENST00000309041.7:c.5262G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000380938
  ensembl transcript: ENST00000397838
  gene symbol: CEP290
  hgvsc: ENST00000397838.3:c.2436G>A
  hgvsp: ENST00000397838.3:c.2436G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36977
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3899
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13208
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1514
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5116
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1665
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2507
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1431
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg1752Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

12-88472978-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88472978
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88472978
    reference: chr 12
allele count: 85
allele frequency: 7.175417862569644e-4
allele num: 118460
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000380938
  ensembl transcript: ENST00000397838
  gene symbol: CEP290
  hgvsc: ENST00000397838.3:c.2435G>A
  hgvsp: ENSP00000380938.3:p.Arg812Gln
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000446905
  ensembl transcript: ENST00000547691
  gene symbol: CEP290
  hgvsc: ENST00000547691.2:c.2435G>A
  hgvsp: ENSP00000446905.1:p.Arg812Gln
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.5255G>A
  hgvsp: ENSP00000448012.1:p.Arg1752Gln
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.5261G>A
  hgvsp: ENSP00000308021.7:p.Arg1754Gln
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 4.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 3941
  bin: 3.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 3.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13256
  bin: 2.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 9.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 36838
  bin: 2.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1669
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2571
  bin: 9.75e1
  variant carriers: 84
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1421
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg1752Gln
num of homozygotes: 1
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

12-88472979-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88472979
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88472979
    reference: chr 12
allele count: 1
allele frequency: 8.439530762089629e-6
allele num: 118490
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000446905
  ensembl transcript: ENST00000547691
  gene symbol: CEP290
  hgvsc: ENST00000547691.2:c.2434C>T
  hgvsp: ENSP00000446905.1:p.Arg812Trp
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.5254C>T
  hgvsp: ENSP00000448012.1:p.Arg1752Trp
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.5260C>T
  hgvsp: ENSP00000308021.7:p.Arg1754Trp
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000380938
  ensembl transcript: ENST00000397838
  gene symbol: CEP290
  hgvsc: ENST00000397838.3:c.2434C>T
  hgvsp: ENSP00000380938.3:p.Arg812Trp
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3986
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13311
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36797
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 822
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5125
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1431
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2496
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45266
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1497
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg1752Trp
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-88472979-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88472979
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88472979
    reference: chr 12
allele count: 1
allele frequency: 8.439530762089629e-6
allele num: 118490
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000380938
  ensembl transcript: ENST00000397838
  gene symbol: CEP290
  hgvsc: ENST00000397838.3:c.2434C>A
  hgvsp: ENST00000397838.3:c.2434C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.5254C>A
  hgvsp: ENST00000552810.1:c.5254C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.5260C>A
  hgvsp: ENST00000309041.7:c.5260C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000446905
  ensembl transcript: ENST00000547691
  gene symbol: CEP290
  hgvsc: ENST00000547691.2:c.2434C>A
  hgvsp: ENST00000547691.2:c.2434C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36797
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3986
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13311
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 822
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45266
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1497
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1682
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5125
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg1752Arg
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

12-88472981-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88472981
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88472981
    reference: chr 12
allele count: 2
allele frequency: 1.687934643170616e-5
allele num: 118488
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.5258T>A
  hgvsp: ENSP00000308021.7:p.Leu1753His
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000380938
  ensembl transcript: ENST00000397838
  gene symbol: CEP290
  hgvsc: ENST00000397838.3:c.2432T>A
  hgvsp: ENSP00000380938.3:p.Leu811His
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000446905
  ensembl transcript: ENST00000547691
  gene symbol: CEP290
  hgvsc: ENST00000547691.2:c.2432T>A
  hgvsp: ENSP00000446905.1:p.Leu811His
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.5252T>A
  hgvsp: ENSP00000448012.1:p.Leu1751His
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3943
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13390
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36608
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5151
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1440
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1788
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1494
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu1751His
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

12-88472985-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88472985
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88472985
    reference: chr 12
allele count: 1
allele frequency: 8.440813019110001e-6
allele num: 118472
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.5254G>A
  hgvsp: ENSP00000308021.7:p.Glu1752Lys
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000446905
  ensembl transcript: ENST00000547691
  gene symbol: CEP290
  hgvsc: ENST00000547691.2:c.2428G>A
  hgvsp: ENSP00000446905.1:p.Glu810Lys
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000380938
  ensembl transcript: ENST00000397838
  gene symbol: CEP290
  hgvsc: ENST00000397838.3:c.2428G>A
  hgvsp: ENSP00000380938.3:p.Glu810Lys
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.5248G>A
  hgvsp: ENSP00000448012.1:p.Glu1750Lys
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36435
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13459
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3957
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5120
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 816
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45105
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1436
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2497
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1492
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Glu1750Lys
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

12-88472994-CCCGA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88472994
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88472990
    reference: chr 12
allele count: 1
allele frequency: 8.465680132741865e-6
allele num: 118124
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000446905
  ensembl transcript: ENST00000547691
  gene symbol: CEP290
  hgvsc: ENST00000547691.2:c.2415_2418delTCGG
  hgvsp: ENSP00000446905.1:p.Ser805ArgfsTer4
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.5235_5238delTCGG
  hgvsp: ENSP00000448012.1:p.Ser1745ArgfsTer4
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000380938
  ensembl transcript: ENST00000397838
  gene symbol: CEP290
  hgvsc: ENST00000397838.3:c.2415_2418delTCGG
  hgvsp: ENSP00000380938.3:p.Ser805ArgfsTer4
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.5241_5244delTCGG
  hgvsp: ENSP00000308021.7:p.Ser1747ArgfsTer4
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13584
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35219
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4048
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2479
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1399
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 804
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1456
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser1745ArgfsTer4
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: CCCGA
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ

12-88472996-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88472996
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88472996
    reference: chr 12
allele count: 1406
allele frequency: 1.192374232504495e-2
allele num: 117916
alternate allele: T
annotation: Annotation
  canonical: true
  clinical significance: likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.5237G>A
  hgvsp: ENSP00000448012.1:p.Arg1746Gln
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000380938
  ensembl transcript: ENST00000397838
  gene symbol: CEP290
  hgvsc: ENST00000397838.3:c.2417G>A
  hgvsp: ENSP00000380938.3:p.Arg806Gln
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000446905
  ensembl transcript: ENST00000547691
  gene symbol: CEP290
  hgvsc: ENST00000547691.2:c.2417G>A
  hgvsp: ENSP00000446905.1:p.Arg806Gln
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.5243G>A
  hgvsp: ENSP00000308021.7:p.Arg1748Gln
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 4.25e1
  variant carriers: 120
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 4080
  bin: 3.25e1
  variant carriers: 173
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 3.75e1
  variant carriers: 151
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 5.75e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 4.75e1
  variant carriers: 77
genotype depth: GenotypeDepth
  all individuals: 33749
  bin: 2.25e1
  variant carriers: 119
genotype depth: GenotypeDepth
  all individuals: 13468
  bin: 2.75e1
  variant carriers: 148
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 1.75e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 9.75e1
  variant carriers: 351
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 5.25e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 1919
  bin: 1.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1370
  bin: 7.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 42452
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 756
  bin: 8.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1320
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4893
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2920
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg1746Gln
num of homozygotes: 29
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

12-88472997-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88472997
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88472997
    reference: chr 12
allele count: 1
allele frequency: 8.485650764557135e-6
allele num: 117846
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.5236C>T
  hgvsp: ENSP00000448012.1:p.Arg1746Trp
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000380938
  ensembl transcript: ENST00000397838
  gene symbol: CEP290
  hgvsc: ENST00000397838.3:c.2416C>T
  hgvsp: ENSP00000380938.3:p.Arg806Trp
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.5242C>T
  hgvsp: ENSP00000308021.7:p.Arg1748Trp
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000446905
  ensembl transcript: ENST00000547691
  gene symbol: CEP290
  hgvsc: ENST00000547691.2:c.2416C>T
  hgvsp: ENSP00000446905.1:p.Arg806Trp
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13776
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33675
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1997
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4120
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1350
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3014
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 784
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43096
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1414
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg1746Trp
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: QD

12-88473008-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88473008
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88473008
    reference: chr 12
allele count: 1
allele frequency: 8.621135575978068e-6
allele num: 115994
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000380938
  ensembl transcript: ENST00000397838
  gene symbol: CEP290
  hgvsc: ENST00000397838.3:c.2407-2A>G
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.5227-2A>G
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000446905
  ensembl transcript: ENST00000547691
  gene symbol: CEP290
  hgvsc: ENST00000547691.2:c.2407-2A>G
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.5233-2A>G
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12114
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2091
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4223
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30107
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3958
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3594
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1285
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2783
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 36510
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5966
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4568
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1295
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1695
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
hgvs: c.5227-2A>G
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

12-88473015-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88473015
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88473015
    reference: chr 12
allele count: 52
allele frequency: 4.560283439155295e-4
allele num: 114028
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000380938
  ensembl transcript: ENST00000397838
  gene symbol: CEP290
  hgvsc: ENST00000397838.3:c.2407-9A>G
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.5227-9A>G
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000446905
  ensembl transcript: ENST00000547691
  gene symbol: CEP290
  hgvsc: ENST00000547691.2:c.2407-9A>G
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.5233-9A>G
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4293
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26742
  bin: 2.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 2785
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7485
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3599
  bin: 3.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11103
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 3.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3672
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2093
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1971
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 737
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2341
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2832
  bin: 9.75e1
  variant carriers: 50
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9319
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1007
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29406
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1752
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1132
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/12-88473019-C-CA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88473019
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88473020
    reference: chr 12
allele count: 1005
allele frequency: 1.21614753503231e-2
allele num: 82638
alternate allele: CA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000380938
  ensembl transcript: ENST00000397838
  gene symbol: CEP290
  hgvsc: ENST00000397838.3:c.2407-14dupT
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.5233-14dupT
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.5227-14dupT
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000446905
  ensembl transcript: ENST00000547691
  gene symbol: CEP290
  hgvsc: ENST00000547691.2:c.2407-14dupT
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: intron
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 2138
  bin: 4.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 9831
  bin: 2.75e1
  variant carriers: 354
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 4.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 6.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 9231
  bin: 1.25e1
  variant carriers: 89
genotype depth: GenotypeDepth
  all individuals: 2923
  bin: 7.5e0
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 6.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 7.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 6310
  bin: 3.25e1
  variant carriers: 136
genotype depth: GenotypeDepth
  all individuals: 3561
  bin: 3.75e1
  variant carriers: 76
genotype depth: GenotypeDepth
  all individuals: 2121
  bin: 9.75e1
  variant carriers: 76
genotype depth: GenotypeDepth
  all individuals: 13383
  bin: 2.25e1
  variant carriers: 430
genotype depth: GenotypeDepth
  all individuals: 5336
  bin: 1.75e1
  variant carriers: 272
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 8.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 9.25e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 8.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 5.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 5.25e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 2814
  bin: 3.25e1
  variant carriers: 116
genotype quality: GenotypeQuality
  all individuals: 1459
  bin: 4.75e1
  variant carriers: 66
genotype quality: GenotypeQuality
  all individuals: 1148
  bin: 5.75e1
  variant carriers: 38
genotype quality: GenotypeQuality
  all individuals: 2899
  bin: 9.75e1
  variant carriers: 162
genotype quality: GenotypeQuality
  all individuals: 2101
  bin: 3.75e1
  variant carriers: 91
genotype quality: GenotypeQuality
  all individuals: 2215
  bin: 1.75e1
  variant carriers: 174
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 8.25e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 2237
  bin: 1.25e1
  variant carriers: 164
genotype quality: GenotypeQuality
  all individuals: 9095
  bin: 2.5e0
  variant carriers: 138
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 7.75e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 8.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 9.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 1421
  bin: 5.25e1
  variant carriers: 53
genotype quality: GenotypeQuality
  all individuals: 12300
  bin: 6.25e1
  variant carriers: 38
genotype quality: GenotypeQuality
  all individuals: 11301
  bin: 2.25e1
  variant carriers: 153
genotype quality: GenotypeQuality
  all individuals: 1299
  bin: 6.75e1
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 1683
  bin: 4.25e1
  variant carriers: 78
num of homozygotes: 1
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum

http://identifiers.org/exac.variant/12-88473019-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88473019
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88473018
    reference: chr 12
allele count: 2024
allele frequency: 2.449236428761587e-2
allele num: 82638
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000380938
  ensembl transcript: ENST00000397838
  gene symbol: CEP290
  hgvsc: ENST00000397838.3:c.2407-14delT
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.5233-14delT
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.5227-14delT
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000446905
  ensembl transcript: ENST00000547691
  gene symbol: CEP290
  hgvsc: ENST00000547691.2:c.2407-14delT
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: intron
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 8.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3561
  bin: 3.75e1
  variant carriers: 195
genotype depth: GenotypeDepth
  all individuals: 5336
  bin: 1.75e1
  variant carriers: 404
genotype depth: GenotypeDepth
  all individuals: 13383
  bin: 2.25e1
  variant carriers: 702
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 8.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 7.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 6.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 2923
  bin: 7.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 9231
  bin: 1.25e1
  variant carriers: 112
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 9.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 5.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 2138
  bin: 4.25e1
  variant carriers: 86
genotype depth: GenotypeDepth
  all individuals: 6310
  bin: 3.25e1
  variant carriers: 345
genotype depth: GenotypeDepth
  all individuals: 9831
  bin: 2.75e1
  variant carriers: 747
genotype depth: GenotypeDepth
  all individuals: 2121
  bin: 9.75e1
  variant carriers: 172
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 6.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 5.25e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 4.75e1
  variant carriers: 67
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.75e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 2814
  bin: 3.25e1
  variant carriers: 202
genotype quality: GenotypeQuality
  all individuals: 1299
  bin: 6.75e1
  variant carriers: 51
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 7.25e1
  variant carriers: 51
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 8.75e1
  variant carriers: 32
genotype quality: GenotypeQuality
  all individuals: 2899
  bin: 9.75e1
  variant carriers: 306
genotype quality: GenotypeQuality
  all individuals: 2237
  bin: 1.25e1
  variant carriers: 229
genotype quality: GenotypeQuality
  all individuals: 2935
  bin: 7.5e0
  variant carriers: 280
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 7.75e1
  variant carriers: 40
genotype quality: GenotypeQuality
  all individuals: 2215
  bin: 1.75e1
  variant carriers: 285
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 9.25e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 9095
  bin: 2.5e0
  variant carriers: 216
genotype quality: GenotypeQuality
  all individuals: 1421
  bin: 5.25e1
  variant carriers: 128
genotype quality: GenotypeQuality
  all individuals: 3158
  bin: 2.75e1
  variant carriers: 244
genotype quality: GenotypeQuality
  all individuals: 1459
  bin: 4.75e1
  variant carriers: 104
genotype quality: GenotypeQuality
  all individuals: 12300
  bin: 6.25e1
  variant carriers: 53
genotype quality: GenotypeQuality
  all individuals: 11301
  bin: 2.25e1
  variant carriers: 286
genotype quality: GenotypeQuality
  all individuals: 1148
  bin: 5.75e1
  variant carriers: 95
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: CA
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/12-88473021-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88473021
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88473021
    reference: chr 12
allele count: 1
allele frequency: 1.059299591110358e-5
allele num: 94402
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.5233-15T>G
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.5227-15T>G
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000446905
  ensembl transcript: ENST00000547691
  gene symbol: CEP290
  hgvsc: ENST00000547691.2:c.2407-15T>G
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000380938
  ensembl transcript: ENST00000397838
  gene symbol: CEP290
  hgvsc: ENST00000397838.3:c.2407-15T>G
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6104
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3653
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12095
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1725
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11103
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2541
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11636
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4405
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1090
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1756
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1989
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17560
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1086
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2763
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2573
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 815
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 888
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1223
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13744
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4504
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5686
  bin: 2.5e0
  variant carriers: 0
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: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD

12-88473026-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88473026
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88473026
    reference: chr 12
allele count: 1
allele frequency: 9.1883051252366e-6
allele num: 108834
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.5233-20T>A
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000446905
  ensembl transcript: ENST00000547691
  gene symbol: CEP290
  hgvsc: ENST00000547691.2:c.2407-20T>A
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.5227-20T>A
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000380938
  ensembl transcript: ENST00000397838
  gene symbol: CEP290
  hgvsc: ENST00000397838.3:c.2407-20T>A
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4874
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9813
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3888
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17239
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4801
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11846
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2413
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3432
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21857
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1237
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17972
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1453
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3161
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-88473028-A-AT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88473028
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88473029
    reference: chr 12
allele count: 1
allele frequency: 9.262003556609365e-6
allele num: 107968
alternate allele: AT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.5233-23_5233-22insA
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000380938
  ensembl transcript: ENST00000397838
  gene symbol: CEP290
  hgvsc: ENST00000397838.3:c.2407-23_2407-22insA
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000446905
  ensembl transcript: ENST00000547691
  gene symbol: CEP290
  hgvsc: ENST00000547691.2:c.2407-23_2407-22insA
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.5227-23_5227-22insA
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4908
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8732
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3621
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6335
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18262
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10369
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4154
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19088
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3552
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1601
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2007
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5078
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 632
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18387
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/12-88473028-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88473028
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88473028
    reference: chr 12
allele count: 1
allele frequency: 9.262003556609365e-6
allele num: 107968
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000380938
  ensembl transcript: ENST00000397838
  gene symbol: CEP290
  hgvsc: ENST00000397838.3:c.2407-22T>G
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.5233-22T>G
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.5227-22T>G
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000446905
  ensembl transcript: ENST00000547691
  gene symbol: CEP290
  hgvsc: ENST00000547691.2:c.2407-22T>G
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4908
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8732
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6335
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10369
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18262
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3621
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1601
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 632
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18387
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4154
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2007
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3552
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

12-88473029-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88473029
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88473029
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 106686
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.5227-23T>A
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.5233-23T>A
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000446905
  ensembl transcript: ENST00000547691
  gene symbol: CEP290
  hgvsc: ENST00000547691.2:c.2407-23T>A
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000380938
  ensembl transcript: ENST00000397838
  gene symbol: CEP290
  hgvsc: ENST00000397838.3:c.2407-23T>A
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 7149
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3485
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5030
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18560
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9713
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8172
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3671
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18315
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2271
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4428
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1886
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17636
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2072
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5076
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff

12-88473030-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88473030
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88473030
    reference: chr 12
allele count: 2
allele frequency: 1.89523159730119e-5
allele num: 105528
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000446905
  ensembl transcript: ENST00000547691
  gene symbol: CEP290
  hgvsc: ENST00000547691.2:c.2407-24A>T
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.5227-24A>T
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000380938
  ensembl transcript: ENST00000397838
  gene symbol: CEP290
  hgvsc: ENST00000397838.3:c.2407-24A>T
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.5233-24A>T
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5186
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3309
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18787
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9193
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7780
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7748
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18279
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1942
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2179
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3717
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2495
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16503
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5082
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4636
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

12-88473030-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88473030
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88473030
    reference: chr 12
allele count: 1
allele frequency: 9.476157986505951e-6
allele num: 105528
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.5233-24A>G
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000380938
  ensembl transcript: ENST00000397838
  gene symbol: CEP290
  hgvsc: ENST00000397838.3:c.2407-24A>G
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000446905
  ensembl transcript: ENST00000547691
  gene symbol: CEP290
  hgvsc: ENST00000547691.2:c.2407-24A>G
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.5227-24A>G
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7748
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7780
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9193
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18787
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3309
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5186
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2495
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2179
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5082
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1942
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3717
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18279
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16503
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

12-88473030-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88473030
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88473030
    reference: chr 12
allele count: 2
allele frequency: 1.89523159730119e-5
allele num: 105528
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000380938
  ensembl transcript: ENST00000397838
  gene symbol: CEP290
  hgvsc: ENST00000397838.3:c.2407-24A>C
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000446905
  ensembl transcript: ENST00000547691
  gene symbol: CEP290
  hgvsc: ENST00000547691.2:c.2407-24A>C
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.5227-24A>C
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.5233-24A>C
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5186
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7748
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9193
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18787
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3309
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7780
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2179
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2495
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5082
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16503
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4636
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1942
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18279
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3717
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: T
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP

12-88473031-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88473031
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88473031
    reference: chr 12
allele count: 3
allele frequency: 2.84608378870674e-5
allele num: 105408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000446905
  ensembl transcript: ENST00000547691
  gene symbol: CEP290
  hgvsc: ENST00000547691.2:c.2407-25C>A
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.5233-25C>A
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.5227-25C>A
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000380938
  ensembl transcript: ENST00000397838
  gene symbol: CEP290
  hgvsc: ENST00000397838.3:c.2407-25C>A
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18924
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7436
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3074
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1641
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5401
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8695
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8370
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 750
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2379
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18424
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5080
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 4948
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2762
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1889
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15746
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: Other
reference allele: G
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

12-88473039-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88473039
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88473039
    reference: chr 12
allele count: 1
allele frequency: 1.031034127229611e-5
allele num: 96990
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000380938
  ensembl transcript: ENST00000397838
  gene symbol: CEP290
  hgvsc: ENST00000397838.3:c.2407-33A>G
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.5233-33A>G
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.5227-33A>G
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000446905
  ensembl transcript: ENST00000547691
  gene symbol: CEP290
  hgvsc: ENST00000547691.2:c.2407-33A>G
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16257
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2077
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7640
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8974
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4255
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1673
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12532
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 759
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2105
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4474
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14446
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1381
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2476
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5159
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1855
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6319
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4083
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1692
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/12-88473041-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88473041
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88473041
    reference: chr 12
allele count: 1
allele frequency: 1.045281598862734e-5
allele num: 95668
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.5233-35T>G
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000380938
  ensembl transcript: ENST00000397838
  gene symbol: CEP290
  hgvsc: ENST00000397838.3:c.2407-35T>G
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.5227-35T>G
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000446905
  ensembl transcript: ENST00000547691
  gene symbol: CEP290
  hgvsc: ENST00000547691.2:c.2407-35T>G
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9577
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12413
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3884
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8052
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2099
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1573
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15765
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4648
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5272
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 946
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1352
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5079
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2116
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2221
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6372
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4080
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13661
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2807
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff

12-88473049-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88473049
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88473049
    reference: chr 12
allele count: 79920
allele frequency: 8.84129477620196e-1
allele num: 90394
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.5233-43G>A
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000380938
  ensembl transcript: ENST00000397838
  gene symbol: CEP290
  hgvsc: ENST00000397838.3:c.2407-43G>A
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  clinical significance: likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.5227-43G>A
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000446905
  ensembl transcript: ENST00000547691
  gene symbol: CEP290
  hgvsc: ENST00000547691.2:c.2407-43G>A
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 9.25e1
  variant carriers: 295
genotype depth: GenotypeDepth
  all individuals: 2141
  bin: 2.5e0
  variant carriers: 1832
genotype depth: GenotypeDepth
  all individuals: 3010
  bin: 2.75e1
  variant carriers: 2897
genotype depth: GenotypeDepth
  all individuals: 6887
  bin: 2.25e1
  variant carriers: 6670
genotype depth: GenotypeDepth
  all individuals: 14699
  bin: 1.25e1
  variant carriers: 13953
genotype depth: GenotypeDepth
  all individuals: 11729
  bin: 1.75e1
  variant carriers: 11304
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 3.75e1
  variant carriers: 609
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 8.25e1
  variant carriers: 522
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 5.25e1
  variant carriers: 660
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 4.25e1
  variant carriers: 558
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 8.75e1
  variant carriers: 397
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 7.75e1
  variant carriers: 651
genotype depth: GenotypeDepth
  all individuals: 11622
  bin: 7.5e0
  variant carriers: 10758
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 4.75e1
  variant carriers: 551
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 6.25e1
  variant carriers: 806
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 3.25e1
  variant carriers: 1179
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 7.25e1
  variant carriers: 762
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 5.75e1
  variant carriers: 776
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 9.75e1
  variant carriers: 598
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 6.75e1
  variant carriers: 786
genotype quality: GenotypeQuality
  all individuals: 1637
  bin: 5.75e1
  variant carriers: 1631
genotype quality: GenotypeQuality
  all individuals: 2903
  bin: 6.25e1
  variant carriers: 2719
genotype quality: GenotypeQuality
  all individuals: 3347
  bin: 1.75e1
  variant carriers: 3276
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 8.75e1
  variant carriers: 477
genotype quality: GenotypeQuality
  all individuals: 4245
  bin: 4.75e1
  variant carriers: 4185
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 9.25e1
  variant carriers: 659
genotype quality: GenotypeQuality
  all individuals: 1120
  bin: 7.5e0
  variant carriers: 828
genotype quality: GenotypeQuality
  all individuals: 963
  bin: 7.25e1
  variant carriers: 945
genotype quality: GenotypeQuality
  all individuals: 4904
  bin: 3.25e1
  variant carriers: 4683
genotype quality: GenotypeQuality
  all individuals: 2499
  bin: 2.75e1
  variant carriers: 2356
genotype quality: GenotypeQuality
  all individuals: 877
  bin: 2.5e0
  variant carriers: 91
genotype quality: GenotypeQuality
  all individuals: 2050
  bin: 6.75e1
  variant carriers: 2011
genotype quality: GenotypeQuality
  all individuals: 1252
  bin: 1.25e1
  variant carriers: 1161
genotype quality: GenotypeQuality
  all individuals: 4796
  bin: 2.25e1
  variant carriers: 4217
genotype quality: GenotypeQuality
  all individuals: 1308
  bin: 7.75e1
  variant carriers: 1290
genotype quality: GenotypeQuality
  all individuals: 2330
  bin: 4.25e1
  variant carriers: 2267
num of homozygotes: 36251
population: African
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: DP
site quality: BaseQRankSum

12-88473921-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88473921
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88473921
    reference: chr 12
allele count: 2
allele frequency: 6.0960741282614e-5
allele num: 32808
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.5226+38A>G
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000380938
  ensembl transcript: ENST00000397838
  gene symbol: CEP290
  hgvsc: ENST00000397838.3:c.2406+38A>G
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000446905
  ensembl transcript: ENST00000547691
  gene symbol: CEP290
  hgvsc: ENST00000547691.2:c.2406+38A>G
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.5232+38A>G
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23965
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7755
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18726
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1730
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 788
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1337
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14344
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2657
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2577
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 17794
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4988
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3569
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2998
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-88473924-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88473924
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88473924
    reference: chr 12
allele count: 1
allele frequency: 3.021513173797438e-5
allele num: 33096
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000380938
  ensembl transcript: ENST00000397838
  gene symbol: CEP290
  hgvsc: ENST00000397838.3:c.2406+35A>G
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000446905
  ensembl transcript: ENST00000547691
  gene symbol: CEP290
  hgvsc: ENST00000547691.2:c.2406+35A>G
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.5226+35A>G
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.5232+35A>G
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17727
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7662
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24940
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3640
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3554
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2579
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13953
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4373
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1171
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1815
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19033
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

12-88473927-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88473927
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88473926
    reference: chr 12
allele count: 1
allele frequency: 2.985431096250299e-5
allele num: 33496
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.5232+31delA
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000380938
  ensembl transcript: ENST00000397838
  gene symbol: CEP290
  hgvsc: ENST00000397838.3:c.2406+31delA
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000446905
  ensembl transcript: ENST00000547691
  gene symbol: CEP290
  hgvsc: ENST00000547691.2:c.2406+31delA
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.5226+31delA
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7476
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2708
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26069
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16396
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21527
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2508
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3587
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3434
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 994
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3001
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3646
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1662
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
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genotype quality: GenotypeQuality
  all individuals: 13468
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2577
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: CT
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-88473933-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88473933
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88473933
    reference: chr 12
allele count: 16
allele frequency: 4.550884578189886e-4
allele num: 35158
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.5226+26C>A
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000380938
  ensembl transcript: ENST00000397838
  gene symbol: CEP290
  hgvsc: ENST00000397838.3:c.2406+26C>A
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.5232+26C>A
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000446905
  ensembl transcript: ENST00000547691
  gene symbol: CEP290
  hgvsc: ENST00000547691.2:c.2406+26C>A
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4464
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28604
  bin: 7.5e0
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6696
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13277
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2591
  bin: 9.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 1323
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25478
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 704
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1555
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2263
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 912
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11630
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 158
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  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2886
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3074
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

12-88473940-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88473940
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88473940
    reference: chr 12
allele count: 31
allele frequency: 7.936101582100251e-4
allele num: 39062
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.5226+19T>C
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.5232+19T>C
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000446905
  ensembl transcript: ENST00000547691
  gene symbol: CEP290
  hgvsc: ENST00000547691.2:c.2406+19T>C
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000380938
  ensembl transcript: ENST00000397838
  gene symbol: CEP290
  hgvsc: ENST00000397838.3:c.2406+19T>C
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 1.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7331
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9793
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5669
  bin: 1.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30361
  bin: 7.5e0
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1310
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1221
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28111
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8065
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1046
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8992
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2539
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 963
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2512
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2616
  bin: 9.75e1
  variant carriers: 34
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

12-88473941-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88473941
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88473941
    reference: chr 12
allele count: 4
allele frequency: 1.006188056547769e-4
allele num: 39754
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000380938
  ensembl transcript: ENST00000397838
  gene symbol: CEP290
  hgvsc: ENST00000397838.3:c.2406+18A>C
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.5226+18A>C
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.5232+18A>C
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000446905
  ensembl transcript: ENST00000547691
  gene symbol: CEP290
  hgvsc: ENST00000547691.2:c.2406+18A>C
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7642
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9416
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5546
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30534
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8637
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1180
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2510
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28104
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 950
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1085
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2587
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2519
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum

12-88473953-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88473953
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88473953
    reference: chr 12
allele count: 1
allele frequency: 2.000320051208193e-5
allele num: 49992
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.5232+6T>A
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000380938
  ensembl transcript: ENST00000397838
  gene symbol: CEP290
  hgvsc: ENST00000397838.3:c.2406+6T>A
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.5226+6T>A
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000446905
  ensembl transcript: ENST00000547691
  gene symbol: CEP290
  hgvsc: ENST00000547691.2:c.2406+6T>A
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2150
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4055
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4750
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13590
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30098
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 695
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1814
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4643
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1440
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1696
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14327
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29033
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 233
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2584
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 7.75e1
  variant carriers: 0
hgvs: c.5226+6T>A
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

12-88473957-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88473957
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88473957
    reference: chr 12
allele count: 1
allele frequency: 1.836344939033348e-5
allele num: 54456
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.5232+2T>A
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.5226+2T>A
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000380938
  ensembl transcript: ENST00000397838
  gene symbol: CEP290
  hgvsc: ENST00000397838.3:c.2406+2T>A
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000446905
  ensembl transcript: ENST00000547691
  gene symbol: CEP290
  hgvsc: ENST00000547691.2:c.2406+2T>A
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: splice donor
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29127
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3755
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3599
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2436
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15666
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2585
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28321
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1572
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16520
  bin: 6.25e1
  variant carriers: 0
hgvs: c.5226+2T>A
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: VQSLOD

12-88473974-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88473974
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88473974
    reference: chr 12
allele count: 1
allele frequency: 1.378853896641112e-5
allele num: 72524
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000446905
  ensembl transcript: ENST00000547691
  gene symbol: CEP290
  hgvsc: ENST00000547691.2:c.2391G>A
  hgvsp: ENST00000547691.2:c.2391G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.5211G>A
  hgvsp: ENST00000552810.1:c.5211G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000380938
  ensembl transcript: ENST00000397838
  gene symbol: CEP290
  hgvsc: ENST00000397838.3:c.2391G>A
  hgvsp: ENST00000397838.3:c.2391G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.5217G>A
  hgvsp: ENST00000309041.7:c.5217G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3701
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2956
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1767
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22607
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23685
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1208
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1224
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2587
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1174
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22391
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2208
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24663
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Lys1737Lys
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff

12-88473986-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88473986
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88473986
    reference: chr 12
allele count: 266
allele frequency: 3.09640770144111e-3
allele num: 85906
alternate allele: C
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000380938
  ensembl transcript: ENST00000397838
  gene symbol: CEP290
  hgvsc: ENST00000397838.3:c.2379A>G
  hgvsp: ENST00000397838.3:c.2379A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000446905
  ensembl transcript: ENST00000547691
  gene symbol: CEP290
  hgvsc: ENST00000547691.2:c.2379A>G
  hgvsp: ENST00000547691.2:c.2379A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.5205A>G
  hgvsp: ENST00000309041.7:c.5205A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.5199A>G
  hgvsp: ENST00000552810.1:c.5199A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29240
  bin: 2.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 4.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 5.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 4683
  bin: 2.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 4.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 16693
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 9.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 1.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 3.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 2401
  bin: 1.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2085
  bin: 3.25e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 851
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1014
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2808
  bin: 9.75e1
  variant carriers: 259
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16723
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2748
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30972
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gln1733Gln
num of homozygotes: 5
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum

12-88473991-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88473991
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88473991
    reference: chr 12
allele count: 2
allele frequency: 2.213368747233289e-5
allele num: 90360
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.5194A>C
  hgvsp: ENSP00000448012.1:p.Ser1732Arg
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000446905
  ensembl transcript: ENST00000547691
  gene symbol: CEP290
  hgvsc: ENST00000547691.2:c.2374A>C
  hgvsp: ENSP00000446905.1:p.Ser792Arg
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.5200A>C
  hgvsp: ENSP00000308021.7:p.Ser1734Arg
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000380938
  ensembl transcript: ENST00000397838
  gene symbol: CEP290
  hgvsc: ENST00000397838.3:c.2374A>C
  hgvsp: ENSP00000380938.3:p.Ser792Arg
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14597
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2173
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5197
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2224
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30958
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32654
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 939
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2982
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14652
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 755
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2578
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 715
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser1732Arg
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

12-88473999-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88473999
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88473999
    reference: chr 12
allele count: 8
allele frequency: 8.244872719777389e-5
allele num: 97030
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000380938
  ensembl transcript: ENST00000397838
  gene symbol: CEP290
  hgvsc: ENST00000397838.3:c.2366G>A
  hgvsp: ENSP00000380938.3:p.Arg789Gln
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.5186G>A
  hgvsp: ENSP00000448012.1:p.Arg1729Gln
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000446905
  ensembl transcript: ENST00000547691
  gene symbol: CEP290
  hgvsc: ENST00000547691.2:c.2366G>A
  hgvsp: ENSP00000446905.1:p.Arg789Gln
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.5192G>A
  hgvsp: ENSP00000308021.7:p.Arg1731Gln
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2467
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6000
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11359
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33737
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 808
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11511
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2583
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 697
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg1729Gln
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

12-88474000-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88474000
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88474000
    reference: chr 12
allele count: 25
allele frequency: 2.532774096812757e-4
allele num: 98706
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.5191C>T
  hgvsp: ENSP00000308021.7:p.Arg1731Trp
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000446905
  ensembl transcript: ENST00000547691
  gene symbol: CEP290
  hgvsc: ENST00000547691.2:c.2365C>T
  hgvsp: ENSP00000446905.1:p.Arg789Trp
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.5185C>T
  hgvsp: ENSP00000448012.1:p.Arg1729Trp
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000380938
  ensembl transcript: ENST00000397838
  gene symbol: CEP290
  hgvsc: ENST00000397838.3:c.2365C>T
  hgvsp: ENSP00000380938.3:p.Arg789Trp
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34415
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6195
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 10524
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2556
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 750
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37188
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10710
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 774
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 718
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3271
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg1729Trp
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

12-88474011-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88474011
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88474011
    reference: chr 12
allele count: 1
allele frequency: 9.394081728511039e-6
allele num: 106450
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000446905
  ensembl transcript: ENST00000547691
  gene symbol: CEP290
  hgvsc: ENST00000547691.2:c.2354A>G
  hgvsp: ENSP00000446905.1:p.Asn785Ser
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.5174A>G
  hgvsp: ENSP00000448012.1:p.Asn1725Ser
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.5180A>G
  hgvsp: ENSP00000308021.7:p.Asn1727Ser
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000380938
  ensembl transcript: ENST00000397838
  gene symbol: CEP290
  hgvsc: ENST00000397838.3:c.2354A>G
  hgvsp: ENSP00000380938.3:p.Asn785Ser
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7315
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37321
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2766
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6903
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40656
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7082
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3726
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 780
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2574
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Asn1725Ser
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

12-88474014-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88474014
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88474014
    reference: chr 12
allele count: 1
allele frequency: 9.291607819817142e-6
allele num: 107624
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000446905
  ensembl transcript: ENST00000547691
  gene symbol: CEP290
  hgvsc: ENST00000547691.2:c.2351G>C
  hgvsp: ENSP00000446905.1:p.Arg784Thr
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.5177G>C
  hgvsp: ENSP00000308021.7:p.Arg1726Thr
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000380938
  ensembl transcript: ENST00000397838
  gene symbol: CEP290
  hgvsc: ENST00000397838.3:c.2351G>C
  hgvsp: ENSP00000380938.3:p.Arg784Thr
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.5171G>C
  hgvsp: ENSP00000448012.1:p.Arg1724Thr
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 7494
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37796
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2824
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6290
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41479
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3727
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6465
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 866
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg1724Thr
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS

12-88474017-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88474017
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88474017
    reference: chr 12
allele count: 1
allele frequency: 9.17094644167278e-6
allele num: 109040
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.5174T>A
  hgvsp: ENSP00000308021.7:p.Met1725Lys
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000380938
  ensembl transcript: ENST00000397838
  gene symbol: CEP290
  hgvsc: ENST00000397838.3:c.2348T>A
  hgvsp: ENSP00000380938.3:p.Met783Lys
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000446905
  ensembl transcript: ENST00000547691
  gene symbol: CEP290
  hgvsc: ENST00000547691.2:c.2348T>A
  hgvsp: ENSP00000446905.1:p.Met783Lys
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.5168T>A
  hgvsp: ENSP00000448012.1:p.Met1723Lys
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2876
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5623
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38256
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7793
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2575
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42303
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 890
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5803
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3787
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 663
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Met1723Lys
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum

12-88474021-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88474021
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88474021
    reference: chr 12
allele count: 14
allele frequency: 1.269219611256165e-4
allele num: 110304
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000446905
  ensembl transcript: ENST00000547691
  gene symbol: CEP290
  hgvsc: ENST00000547691.2:c.2344A>G
  hgvsp: ENSP00000446905.1:p.Thr782Ala
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.5170A>G
  hgvsp: ENSP00000308021.7:p.Thr1724Ala
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.5164A>G
  hgvsp: ENSP00000448012.1:p.Thr1722Ala
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000380938
  ensembl transcript: ENST00000397838
  gene symbol: CEP290
  hgvsc: ENST00000397838.3:c.2344A>G
  hgvsp: ENSP00000380938.3:p.Thr782Ala
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5016
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 38560
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8142
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2963
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 903
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3879
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42849
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 789
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5179
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr1722Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-88474038-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88474038
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88474038
    reference: chr 12
allele count: 1
allele frequency: 8.627978809684043e-6
allele num: 115902
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000380938
  ensembl transcript: ENST00000397838
  gene symbol: CEP290
  hgvsc: ENST00000397838.3:c.2327C>A
  hgvsp: ENSP00000380938.3:p.Ser776Ter
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000446905
  ensembl transcript: ENST00000547691
  gene symbol: CEP290
  hgvsc: ENST00000547691.2:c.2327C>A
  hgvsp: ENSP00000446905.1:p.Ser776Ter
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.5153C>A
  hgvsp: ENSP00000308021.7:p.Ser1718Ter
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.5147C>A
  hgvsp: ENSP00000448012.1:p.Ser1716Ter
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2321
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3356
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40198
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9708
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2576
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46696
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 948
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2432
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 801
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser1716Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/12-88474040-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88474040
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88474040
    reference: chr 12
allele count: 8
allele frequency: 6.865420592829068e-5
allele num: 116526
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.5145T>G
  hgvsp: ENSP00000448012.1:p.Asn1715Lys
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.5151T>G
  hgvsp: ENSP00000308021.7:p.Asn1717Lys
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000446905
  ensembl transcript: ENST00000547691
  gene symbol: CEP290
  hgvsc: ENST00000547691.2:c.2325T>G
  hgvsp: ENSP00000446905.1:p.Asn775Lys
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000380938
  ensembl transcript: ENST00000397838
  gene symbol: CEP290
  hgvsc: ENST00000397838.3:c.2325T>G
  hgvsp: ENSP00000380938.3:p.Asn775Lys
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9854
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40469
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3360
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2025
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 951
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47182
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4288
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2132
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2582
  bin: 9.75e1
  variant carriers: 8
hgvs: p.Asn1715Lys
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: QD

12-88474056-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88474056
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88474056
    reference: chr 12
allele count: 16
allele frequency: 1.341966652128695e-4
allele num: 119228
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000446905
  ensembl transcript: ENST00000547691
  gene symbol: CEP290
  hgvsc: ENST00000547691.2:c.2309C>T
  hgvsp: ENSP00000446905.1:p.Ala770Val
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000380938
  ensembl transcript: ENST00000397838
  gene symbol: CEP290
  hgvsc: ENST00000397838.3:c.2309C>T
  hgvsp: ENSP00000380938.3:p.Ala770Val
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.5129C>T
  hgvsp: ENSP00000448012.1:p.Ala1710Val
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.5135C>T
  hgvsp: ENSP00000308021.7:p.Ala1712Val
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41274
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10849
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3522
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 762
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49265
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4413
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 975
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2590
  bin: 9.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala1710Val
num of homozygotes: 1
population: Latino
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/12-88474058-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88474058
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88474058
    reference: chr 12
allele count: 16
allele frequency: 1.339225927413955e-4
allele num: 119472
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000446905
  ensembl transcript: ENST00000547691
  gene symbol: CEP290
  hgvsc: ENST00000547691.2:c.2307G>T
  hgvsp: ENSP00000446905.1:p.Gln769His
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.5127G>T
  hgvsp: ENSP00000448012.1:p.Gln1709His
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.5133G>T
  hgvsp: ENSP00000308021.7:p.Gln1711His
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000380938
  ensembl transcript: ENST00000397838
  gene symbol: CEP290
  hgvsc: ENST00000397838.3:c.2307G>T
  hgvsp: ENSP00000380938.3:p.Gln769His
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10930
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41354
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3543
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 49535
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4431
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 982
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2592
  bin: 9.75e1
  variant carriers: 16
hgvs: p.Gln1709His
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: DP

12-88474060-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88474060
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88474060
    reference: chr 12
allele count: 3
allele frequency: 2.506223789076206e-5
allele num: 119702
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.5125C>A
  hgvsp: ENSP00000448012.1:p.Gln1709Lys
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000380938
  ensembl transcript: ENST00000397838
  gene symbol: CEP290
  hgvsc: ENST00000397838.3:c.2305C>A
  hgvsp: ENSP00000380938.3:p.Gln769Lys
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000446905
  ensembl transcript: ENST00000547691
  gene symbol: CEP290
  hgvsc: ENST00000547691.2:c.2305C>A
  hgvsp: ENSP00000446905.1:p.Gln769Lys
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.5131C>A
  hgvsp: ENSP00000308021.7:p.Gln1711Lys
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41387
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11033
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3565
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49714
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 836
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4461
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 986
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gln1709Lys
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff

12-88474068-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88474068
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 88474068
    reference: chr 12
allele count: 1
allele frequency: 8.325424180361989e-6
allele num: 120114
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000380938
  ensembl transcript: ENST00000397838
  gene symbol: CEP290
  hgvsc: ENST00000397838.3:c.2297C>T
  hgvsp: ENSP00000380938.3:p.Ser766Phe
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000446905
  ensembl transcript: ENST00000547691
  gene symbol: CEP290
  hgvsc: ENST00000547691.2:c.2297C>T
  hgvsp: ENSP00000446905.1:p.Ser766Phe
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000448012
  ensembl transcript: ENST00000552810
  gene symbol: CEP290
  hgvsc: ENST00000552810.1:c.5117C>T
  hgvsp: ENSP00000448012.1:p.Ser1706Phe
  variant of: http://identifiers.org/hgnc/29021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198707
  ensembl protein: ENSP00000308021
  ensembl transcript: ENST00000309041
  gene symbol: CEP290
  hgvsc: ENST00000309041.7:c.5123C>T
  hgvsp: ENSP00000308021.7:p.Ser1708Phe
  variant of: http://identifiers.org/hgnc/29021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11146
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41552
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3579
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 826
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4502
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2577
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser1706Phe
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 387
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 514
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2410
bin: 9.75e1
variant carriers: 22

European (Finnish)
type: Population
allele count: 2
allele frequency: 4.293688278231001e-4
allele num: 4658
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 614
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5384
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 18
allele frequency: 4.403561992367159e-4
allele num: 40876
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7108
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 1.70299727520436e-4
allele num: 5872
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.21e0

MQRankSum
type: SiteQuality
SIO_000300: 2.99e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.68e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.41e-1

DP
type: SiteQuality
SIO_000300: 9.60354e5

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.225e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 700
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3173
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11766
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 634
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5578
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.371742112482853e-4
allele num: 7290
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4778
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6194
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.357156326607581e-5
allele num: 42424
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 7.05e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.95e0

FS
type: SiteQuality
SIO_000300: 5.692e0

VQSLOD
type: SiteQuality
SIO_000300: 9.3e-2

DP
type: SiteQuality
SIO_000300: 1.038593e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.5e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.55e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.5e-1

GenotypeQuality
all individuals: 829
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 678
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2179
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43064
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 638
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5696
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11916
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4806
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 7.918910357934748e-4
allele num: 6314
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7342
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.073e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.19e0

MQRankSum
type: SiteQuality
SIO_000300: 2.72e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.98e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.17e0

DP
type: SiteQuality
SIO_000300: 1.05353e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.78e-1

GenotypeQuality
all individuals: 805
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17581
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 497
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.123476848090982e-5
allele num: 12310
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6810
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7542
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45270
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6000
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 664
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e-1

QD
type: SiteQuality
SIO_000300: 5.27e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.163e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.254e0

MQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.34e-1

DP
type: SiteQuality
SIO_000300: 1.121193e6

GenotypeQuality
all individuals: 219
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2424
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 506
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6000
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 664
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.208968411751712e-5
allele num: 45270
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7542
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12310
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6810
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 5.27e0

FS
type: SiteQuality
SIO_000300: 3.254e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.34e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.163e0

DP
type: SiteQuality
SIO_000300: 1.121193e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 722
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3913
bin: 3.25e1
variant carriers: 0

Other
type: Population
allele count: 1
allele frequency: 1.497005988023952e-3
allele num: 668
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6990
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European (Finnish)
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allele count: 20
allele frequency: 3.980891719745223e-3
allele num: 5024
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.317523056653491e-4
allele num: 7590
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 8.052826542116283e-5
allele num: 12418
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.636125654450262e-4
allele num: 6112
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 45938
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.3e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

FS
type: SiteQuality
SIO_000300: 5.81e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.38e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.73e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.2e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.61e0

DP
type: SiteQuality
SIO_000300: 1.136979e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.72e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 7898
num of homozygotes: 0

East Asian
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allele count: 2
allele frequency: 3.022061045633122e-4
allele num: 6618
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5318
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 7966
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 12986
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 49806
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 692
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.193e0

VQSLOD
type: SiteQuality
SIO_000300: 6.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.96e0

MQRankSum
type: SiteQuality
SIO_000300: 1.22e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

DP
type: SiteQuality
SIO_000300: 1.21436e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.343e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.05e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8030
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 8034
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6682
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 700
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5386
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 50460
num of homozygotes: 0

South Asian
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allele frequency: 8.413645403090103e-4
allele num: 13074
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.7e-2

FS
type: SiteQuality
SIO_000300: 3.05e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.366e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.15e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.85e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.301e1

DP
type: SiteQuality
SIO_000300: 1.228499e6

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 13704
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54478
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 760
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.393922497909116e-4
allele num: 7174
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 8910
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5666
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8366
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.22e-1

DP
type: SiteQuality
SIO_000300: 1.298989e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.16e-1

FS
type: SiteQuality
SIO_000300: 2.94e0

QD
type: SiteQuality
SIO_000300: 9.609999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.69e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.3e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.22e-1

MQ
type: SiteQuality
SIO_000300: 5.915e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 1
allele frequency: 1.369487811558477e-4
allele num: 7302
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 55402
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5748
num of homozygotes: 0

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 13830
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 3.5e-2

FS
type: SiteQuality
SIO_000300: 3.086e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.56e0

MQRankSum
type: SiteQuality
SIO_000300: 7.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.13e-1

QD
type: SiteQuality
SIO_000300: 8.9e0

VQSLOD
type: SiteQuality
SIO_000300: -7.596000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.89e1

DP
type: SiteQuality
SIO_000300: 1.314808e6

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 56204
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5790
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 784
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9344
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.352813852813853e-4
allele num: 7392
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 13958
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 7.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.29e0

MQ
type: SiteQuality
SIO_000300: 5.954e1

DP
type: SiteQuality
SIO_000300: 1.329074e6

VQSLOD
type: SiteQuality
SIO_000300: 7.79e-1

FS
type: SiteQuality
SIO_000300: 2.184e0

QD
type: SiteQuality
SIO_000300: 1.181e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele frequency: 7.055171440666009e-5
allele num: 14174
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5868
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9628
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7526
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8660
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 798
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.740825847782188e-5
allele num: 57444
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.16e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

FS
type: SiteQuality
SIO_000300: 2.305e0

MQRankSum
type: SiteQuality
SIO_000300: 4.58e-1

DP
type: SiteQuality
SIO_000300: 1.354259e6

VQSLOD
type: SiteQuality
SIO_000300: 9.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.76e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.5e-2

QD
type: SiteQuality
SIO_000300: 1.138e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5926
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14326
num of homozygotes: 0

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

East Asian
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allele count: 1
allele frequency: 1.312680493567866e-4
allele num: 7618
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 58120
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African
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 802
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.5e0

VQSLOD
type: SiteQuality
SIO_000300: 7.4e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.497e0

MQRankSum
type: SiteQuality
SIO_000300: -6.14e-1

QD
type: SiteQuality
SIO_000300: 1.24e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

DP
type: SiteQuality
SIO_000300: 1.365602e6

BaseQRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele count: 2
allele frequency: 3.345600535296086e-4
allele num: 5978
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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East Asian
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allele count: 2
allele frequency: 2.599428125812321e-4
allele num: 7694
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European (Non-Finnish)
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allele count: 10
allele frequency: 1.703867779860283e-4
allele num: 58690
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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African
type: Population
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allele num: 8750
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MQRankSum
type: SiteQuality
SIO_000300: 3.82e-1

MQ
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 2.89e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6030
num of homozygotes: 0

African
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East Asian
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 59586
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Latino
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South Asian
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Other
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -6.1e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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Latino
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African
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East Asian
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.662068277764851e-5
allele num: 60166
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Other
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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DP
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele frequency: 2.228660574994428e-4
allele num: 8974
num of homozygotes: 0

European (Finnish)
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allele count: 10
allele frequency: 1.62813415825464e-3
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East Asian
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allele num: 7960
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European (Non-Finnish)
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allele count: 326
allele frequency: 5.349348560926783e-3
allele num: 60942
num of homozygotes: 1

Latino
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allele frequency: 2.400153609831029e-3
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Other
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allele frequency: 2.444987775061125e-3
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South Asian
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allele frequency: 1.340302908457311e-3
allele num: 14922
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8066
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10622
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.321877065432915e-4
allele num: 15130
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6212
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9096
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.616292225634395e-5
allele num: 61870
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.304e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.186e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.97e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.41e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

DP
type: SiteQuality
SIO_000300: 1.439636e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.47e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.41e-1

QD
type: SiteQuality
SIO_000300: 1.424e1

GenotypeQuality
all individuals: 80
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1222
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variant carriers: 0

GenotypeQuality
all individuals: 4919
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.238236750866766e-4
allele num: 8076
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9106
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10644
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61966
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15146
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6222
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.21e0

MQRankSum
type: SiteQuality
SIO_000300: 2.2e-1

DP
type: SiteQuality
SIO_000300: 1.441432e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.59e-1

QD
type: SiteQuality
SIO_000300: 1.497e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.24e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 229
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GenotypeQuality
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variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9498
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.547939692269589e-5
allele num: 64602
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6448
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8406
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.659e0

VQSLOD
type: SiteQuality
SIO_000300: -2.91e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.066e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.185e0

QD
type: SiteQuality
SIO_000300: 6.09e0

DP
type: SiteQuality
SIO_000300: 1.517643e6

GenotypeQuality
all individuals: 808
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 3

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15852
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64712
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9526
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.149425287356322e-3
allele num: 870
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.374169040835708e-4
allele num: 8424
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11162
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.78e0

DP
type: SiteQuality
SIO_000300: 1.520625e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.16e-2

FS
type: SiteQuality
SIO_000300: 1.962e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.28e0

MQRankSum
type: SiteQuality
SIO_000300: 1.55e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.39e-1

QD
type: SiteQuality
SIO_000300: 1.389e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 313
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11172
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.373605506764776e-4
allele num: 8426
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9546
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64786
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15878
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6464
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.344e1

FS
type: SiteQuality
SIO_000300: 3.168e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.33e0

DP
type: SiteQuality
SIO_000300: 1.522084e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.56e0

VQSLOD
type: SiteQuality
SIO_000300: -9.173e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.49e-2

GenotypeQuality
all individuals: 44826
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 112
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GenotypeQuality
all individuals: 825
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15988
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6484
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8470
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11222
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9594
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.534872298624754e-5
allele num: 65152
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.309e0

FS
type: SiteQuality
SIO_000300: 1.1831e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.02e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 9.350000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.743e0

MQRankSum
type: SiteQuality
SIO_000300: -1.102e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.725e0

QD
type: SiteQuality
SIO_000300: 8.69e0

MQ
type: SiteQuality
SIO_000300: 5.938e1

DP
type: SiteQuality
SIO_000300: 1.532672e6

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8468
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9598
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11226
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16000
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6486
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.533977603926983e-5
allele num: 65190
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.4e-3

FS
type: SiteQuality
SIO_000300: 1.0399e1

MQRankSum
type: SiteQuality
SIO_000300: -5.807e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.69e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.84e0

QD
type: SiteQuality
SIO_000300: 8.35e0

VQSLOD
type: SiteQuality
SIO_000300: 1.14e-1

DP
type: SiteQuality
SIO_000300: 1.534197e6

MQ
type: SiteQuality
SIO_000300: 4.878e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 45041
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GenotypeQuality
all individuals: 108
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6486
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8472
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9598
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.53275497378989e-5
allele num: 65242
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16012
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11236
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.579e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.276e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.1e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.605e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.096e0

DP
type: SiteQuality
SIO_000300: 1.535404e6

MQ
type: SiteQuality
SIO_000300: 4.956e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.868e0

FS
type: SiteQuality
SIO_000300: 9.664999999999999e0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6494
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16028
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8476
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.041449697979588e-4
allele num: 9602
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65282
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11252
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.535799e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.1e-3

MQRankSum
type: SiteQuality
SIO_000300: -7.14e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.63e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.26e-1

MQ
type: SiteQuality
SIO_000300: 6.024e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.629999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.67e0

QD
type: SiteQuality
SIO_000300: 9.07e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2506
bin: 9.75e1
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8498
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16096
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9628
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65452
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.31e-1

ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.092e0

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

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.540844e6

QD
type: SiteQuality
SIO_000300: 1.487e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.2e-3

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.525739220652406e-5
allele num: 65542
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11282
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: 872
num of homozygotes: 0

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

South Asian
type: Population
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VQSLOD
type: SiteQuality
SIO_000300: 7.16e-1

MQ
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.684e0

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.3e-2

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 3.17e-1

InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 45124
bin: 6.25e1
variant carriers: 0

Other
type: Population
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allele num: 870
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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African
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allele count: 82
allele frequency: 8.507989209379539e-3
allele num: 9638
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.526065193505067e-5
allele num: 65528
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.772735330615139e-4
allele num: 11282
num of homozygotes: 0

South Asian
type: Population
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num of homozygotes: 0

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 7.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.84e-1

FS
type: SiteQuality
SIO_000300: 3.706e0

DP
type: SiteQuality
SIO_000300: 1.546283e6

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.967e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 82
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GenotypeQuality
all individuals: 326
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8488
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.525646111128063e-5
allele num: 65546
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11284
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9642
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16148
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.1e-2

QD
type: SiteQuality
SIO_000300: 8.720000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: -7.000000000000001e-2

FS
type: SiteQuality
SIO_000300: 1.649e0

DP
type: SiteQuality
SIO_000300: 1.544944e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.889999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.59e-1

GenotypeQuality
all individuals: 200
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2496
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 349
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1431
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11284
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8488
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9642
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16148
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.525646111128063e-5
allele num: 65546
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.544944e6

VQSLOD
type: SiteQuality
SIO_000300: 3.1e-2

FS
type: SiteQuality
SIO_000300: 1.649e0

QD
type: SiteQuality
SIO_000300: 8.720000000000001e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -7.000000000000001e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.59e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.889999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

GenotypeQuality
all individuals: 2499
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 349
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45067
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 822
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8490
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16156
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9632
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.051199121254653e-5
allele num: 65548
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.7e-2

MQ
type: SiteQuality
SIO_000300: 5.934e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.16e-1

FS
type: SiteQuality
SIO_000300: 3.39e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.46e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.46e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.553e-1

QD
type: SiteQuality
SIO_000300: 7.78e0

DP
type: SiteQuality
SIO_000300: 1.543102e6

GenotypeQuality
all individuals: 1868
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 347
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8488
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9626
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11284
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16154
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.525739220652406e-5
allele num: 65542
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.988e1

DP
type: SiteQuality
SIO_000300: 1.542935e6

QD
type: SiteQuality
SIO_000300: 1.417e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.99e-1

FS
type: SiteQuality
SIO_000300: 2.808e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.47e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 5.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.36e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.69e-1

GenotypeQuality
all individuals: 44070
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5059
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2499
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 1
allele frequency: 6.200396825396825e-5
allele num: 16128
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9592
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8456
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11258
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65340
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6486
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.536054e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.018e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.35e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.041e1

MQRankSum
type: SiteQuality
SIO_000300: 8.599999999999999e-2

FS
type: SiteQuality
SIO_000300: 1.885e0

VQSLOD
type: SiteQuality
SIO_000300: 3.04e0

MQ
type: SiteQuality
SIO_000300: 5.961e1

GenotypeQuality
all individuals: 186
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 110
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3766
bin: 9.75e1
variant carriers: 1361

GenotypeQuality
all individuals: 326
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 269
bin: 5.75e1
variant carriers: 1

Latino
type: Population
allele count: 59
allele frequency: 5.249110320284698e-3
allele num: 11240
num of homozygotes: 0

East Asian
type: Population
allele count: 59
allele frequency: 6.998813760379597e-3
allele num: 8430
num of homozygotes: 1

Other
type: Population
allele count: 5
allele frequency: 5.80046403712297e-3
allele num: 862
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 537
allele frequency: 8.236196319018405e-3
allele num: 65200
num of homozygotes: 1

South Asian
type: Population
allele count: 712
allele frequency: 4.407577070694565e-2
allele num: 16154
num of homozygotes: 27

European (Finnish)
type: Population
allele count: 11
allele frequency: 1.697007096575131e-3
allele num: 6482
num of homozygotes: 0

African
type: Population
allele count: 23
allele frequency: 2.408881441139506e-3
allele num: 9548
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.976e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.41e-2

QD
type: SiteQuality
SIO_000300: 1.168e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.08e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.51e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.23e0

DP
type: SiteQuality
SIO_000300: 1.577167e6

FS
type: SiteQuality
SIO_000300: 5.649999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.66e0

GenotypeQuality
all individuals: 5021
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2788
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 119
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.048218029350105e-4
allele num: 9540
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16134
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65160
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8426
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11244
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.91e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.59e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.46e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.231e0

MQ
type: SiteQuality
SIO_000300: 5.811e1

DP
type: SiteQuality
SIO_000300: 1.553624e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.47e-1

QD
type: SiteQuality
SIO_000300: 8.85e0

GenotypeQuality
all individuals: 1429
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 304
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1355
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15948
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9352
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.560939060939061e-5
allele num: 64064
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11152
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8252
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6374
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

MQ
type: SiteQuality
SIO_000300: 5.957e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.351e1

VQSLOD
type: SiteQuality
SIO_000300: 1.29e0

MQRankSum
type: SiteQuality
SIO_000300: 3.91e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.8e-2

DP
type: SiteQuality
SIO_000300: 1.49556e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.87e-1

GenotypeQuality
all individuals: 331
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1130
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1269
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8066
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9164
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6248
num of homozygotes: 0

Latino
type: Population
allele count: 52
allele frequency: 4.704179482540257e-3
allele num: 11054
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15752
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62904
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.29e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.098e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.54e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.14e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.4e-2

DP
type: SiteQuality
SIO_000300: 1.435822e6

QD
type: SiteQuality
SIO_000300: 1.401e1

GenotypeQuality
all individuals: 2935
bin: 7.5e0
variant carriers: 180

GenotypeQuality
all individuals: 583
bin: 7.25e1
variant carriers: 13

GenotypeQuality
all individuals: 3158
bin: 2.75e1
variant carriers: 126

European (Finnish)
type: Population
allele count: 19
allele frequency: 3.757911392405063e-3
allele num: 5056
num of homozygotes: 0

Latino
type: Population
allele count: 104
allele frequency: 1.390374331550802e-2
allele num: 7480
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 444
allele frequency: 9.80825307060175e-3
allele num: 45268
num of homozygotes: 0

African
type: Population
allele count: 92
allele frequency: 1.362962962962963e-2
allele num: 6750
num of homozygotes: 0

Other
type: Population
allele count: 3
allele frequency: 5.016722408026756e-3
allele num: 598
num of homozygotes: 0

East Asian
type: Population
allele count: 60
allele frequency: 1.071811361200429e-2
allele num: 5598
num of homozygotes: 0

South Asian
type: Population
allele count: 283
allele frequency: 2.380551816958277e-2
allele num: 11888
num of homozygotes: 1

DP
type: SiteQuality
SIO_000300: 1.786832e6

BaseQRankSum
type: SiteQuality
SIO_000300: -6.15e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

FS
type: SiteQuality
SIO_000300: 2.151e0

VQSLOD
type: SiteQuality
SIO_000300: 8.23e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.99e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.95e-1

QD
type: SiteQuality
SIO_000300: 1.02e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.36e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.2e-2

GenotypeQuality
all individuals: 463
bin: 8.25e1
variant carriers: 35

GenotypeQuality
all individuals: 2101
bin: 3.75e1
variant carriers: 213

GenotypeQuality
all individuals: 1683
bin: 4.25e1
variant carriers: 168

Other
type: Population
allele count: 8
allele frequency: 1.337792642140468e-2
allele num: 598
num of homozygotes: 0

East Asian
type: Population
allele count: 112
allele frequency: 2.000714540907467e-2
allele num: 5598
num of homozygotes: 0

South Asian
type: Population
allele count: 200
allele frequency: 1.682368775235532e-2
allele num: 11888
num of homozygotes: 0

African
type: Population
allele count: 130
allele frequency: 1.925925925925926e-2
allele num: 6750
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 36
allele frequency: 7.120253164556962e-3
allele num: 5056
num of homozygotes: 0

Latino
type: Population
allele count: 214
allele frequency: 2.86096256684492e-2
allele num: 7480
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1324
allele frequency: 2.924803393125387e-2
allele num: 45268
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.2e-2

FS
type: SiteQuality
SIO_000300: 2.151e0

MQRankSum
type: SiteQuality
SIO_000300: 1.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.15e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

QD
type: SiteQuality
SIO_000300: 1.02e0

DP
type: SiteQuality
SIO_000300: 1.786832e6

VQSLOD
type: SiteQuality
SIO_000300: 8.23e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.36e-2

GenotypeQuality
all individuals: 1115
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1503
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 302
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 718
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7668
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9056
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.947723111682443e-5
allele num: 51342
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5518
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13514
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.68e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.74e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.0e-1

QD
type: SiteQuality
SIO_000300: 1.596e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.65e-1

DP
type: SiteQuality
SIO_000300: 1.620189e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.76e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.64e0

GenotypeQuality
all individuals: 245
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 704
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5077
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 1
allele frequency: 1.151277918489523e-4
allele num: 8686
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5962
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10810
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59842
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15180
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7552
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.35e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.376e-1

QD
type: SiteQuality
SIO_000300: 1.142e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 9.657e0

DP
type: SiteQuality
SIO_000300: 1.415738e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -7.94e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.5e-1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 352
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10782
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15092
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.686113171916099e-5
allele num: 59308
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7462
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 798
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.776e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.765e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.98e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.35e0

DP
type: SiteQuality
SIO_000300: 1.380813e6

MQ
type: SiteQuality
SIO_000300: 5.978e1

QD
type: SiteQuality
SIO_000300: 1.161e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.47e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.226e0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 19088
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.16144018583043e-4
allele num: 8610
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7462
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 798
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10782
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15092
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59308
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.98e0

VQSLOD
type: SiteQuality
SIO_000300: -2.765e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.47e0

MQ
type: SiteQuality
SIO_000300: 5.978e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.226e0

FS
type: SiteQuality
SIO_000300: 5.776e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.35e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

DP
type: SiteQuality
SIO_000300: 1.380813e6

QD
type: SiteQuality
SIO_000300: 1.161e1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8504
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7328
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 794
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14930
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58562
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10716
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.91e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.707e0

QD
type: SiteQuality
SIO_000300: 2.87e0

FS
type: SiteQuality
SIO_000300: 1.6967e1

MQ
type: SiteQuality
SIO_000300: 5.901e1

MQRankSum
type: SiteQuality
SIO_000300: -1.54e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.102e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.07e-1

DP
type: SiteQuality
SIO_000300: 1.364358e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.8e-3

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7192
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 784
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.766815536608472e-5
allele num: 14778
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10648
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5790
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.1936022917164e-4
allele num: 8378
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57958
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.49e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.23e-1

DP
type: SiteQuality
SIO_000300: 1.349673e6

MQRankSum
type: SiteQuality
SIO_000300: 3.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.66e0

MQ
type: SiteQuality
SIO_000300: 5.87e1

FS
type: SiteQuality
SIO_000300: 1.196e1

QD
type: SiteQuality
SIO_000300: 1.04e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.86e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.582e0

GenotypeQuality
all individuals: 4636
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7192
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8378
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 784
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5790
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10648
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14778
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.725387349459954e-5
allele num: 57958
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.49e-2

MQ
type: SiteQuality
SIO_000300: 5.87e1

VQSLOD
type: SiteQuality
SIO_000300: -1.582e0

FS
type: SiteQuality
SIO_000300: 1.196e1

QD
type: SiteQuality
SIO_000300: 1.04e1

DP
type: SiteQuality
SIO_000300: 1.349673e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.66e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.86e-1

GenotypeQuality
all individuals: 575
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 378
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 693
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10648
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57958
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7192
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5790
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8378
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.353363107321694e-4
allele num: 14778
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 784
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.87e1

QD
type: SiteQuality
SIO_000300: 1.04e1

MQRankSum
type: SiteQuality
SIO_000300: 3.39e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.86e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.582e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.66e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.49e-2

FS
type: SiteQuality
SIO_000300: 1.196e1

DP
type: SiteQuality
SIO_000300: 1.349673e6

GenotypeQuality
all individuals: 391
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3818
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 465
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57850
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5780
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7206
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.382623381497467e-5
allele num: 10658
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8374
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.355013550135501e-4
allele num: 14760
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 780
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.266e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.3e-3

DP
type: SiteQuality
SIO_000300: 1.333048e6

VQSLOD
type: SiteQuality
SIO_000300: 9.83e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.44e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.977e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.820000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.523e0

QD
type: SiteQuality
SIO_000300: 1.232e1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5079
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 344
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13952
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7874
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10270
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5176
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.888930865130336e-5
allele num: 52940
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6032
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -7.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.61e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -3.151e-1

DP
type: SiteQuality
SIO_000300: 1.231891e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.800000000000001e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.42e-1

QD
type: SiteQuality
SIO_000300: 9.039999999999999e0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6806
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7722
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5040
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10226
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13844
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 726
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5822
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.912484700122399e-5
allele num: 52288
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.12e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.97e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.66e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.252e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.55e-1

DP
type: SiteQuality
SIO_000300: 1.224006e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.500000000000001e-3

GenotypeQuality
all individuals: 14480
bin: 9.75e1
variant carriers: 14380

GenotypeQuality
all individuals: 957
bin: 8.25e1
variant carriers: 932

GenotypeQuality
all individuals: 3663
bin: 5.25e1
variant carriers: 3634

GenotypeQuality
all individuals: 4988
bin: 3.75e1
variant carriers: 4822

African
type: Population
allele count: 2817
allele frequency: 4.015108323831243e-1
allele num: 7016
num of homozygotes: 573

Other
type: Population
allele count: 629
allele frequency: 9.037356321839081e-1
allele num: 696
num of homozygotes: 284

South Asian
type: Population
allele count: 11847
allele frequency: 8.851613867304244e-1
allele num: 13384
num of homozygotes: 5254

European (Finnish)
type: Population
allele count: 4438
allele frequency: 9.626898047722343e-1
allele num: 4610
num of homozygotes: 2137

European (Non-Finnish)
type: Population
allele count: 45929
allele frequency: 9.265857004519045e-1
allele num: 49568
num of homozygotes: 21270

Latino
type: Population
allele count: 9197
allele frequency: 9.27865213882163e-1
allele num: 9912
num of homozygotes: 4273

East Asian
type: Population
allele count: 5063
allele frequency: 9.7215821812596e-1
allele num: 5208
num of homozygotes: 2460

MQRankSum
type: SiteQuality
SIO_000300: 5.6e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -7.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.471e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 9.06e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 3.196e1

DP
type: SiteQuality
SIO_000300: 1.270704e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.069e0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 3731
bin: 1.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2354
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6004
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4058
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 966
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.220554131575735e-4
allele num: 16386
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 322
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2718
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.641e1

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.1e-2

FS
type: SiteQuality
SIO_000300: 1.3474e1

VQSLOD
type: SiteQuality
SIO_000300: -5.362e-1

DP
type: SiteQuality
SIO_000300: 6.81802e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.79e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.18e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e-1

GenotypeQuality
all individuals: 3012
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 800
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2926
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2378
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 326
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4086
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2734
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.650709805216243e-4
allele num: 6058
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16530
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 984
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.61e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.72e-1

DP
type: SiteQuality
SIO_000300: 6.91969e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.79e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.4e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-2

QD
type: SiteQuality
SIO_000300: 1.255e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.52e-1

GenotypeQuality
all individuals: 262
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 376
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 1.004016064257028e-3
allele num: 996
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2414
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6176
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2748
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 328
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4106
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16728
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.403e0

DP
type: SiteQuality
SIO_000300: 7.07547e5

BaseQRankSum
type: SiteQuality
SIO_000300: -4.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.46e0

MQ
type: SiteQuality
SIO_000300: 6.035e1

MQRankSum
type: SiteQuality
SIO_000300: 1.89e0

QD
type: SiteQuality
SIO_000300: 9.92e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.3e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.52e0

GenotypeQuality
all individuals: 260
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5362
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 305
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 348
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 2.854532998401462e-4
allele num: 17516
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 11
allele frequency: 3.903477643718949e-3
allele num: 2818
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2576
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4250
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1072
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.5e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.783e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.98e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.054e0

DP
type: SiteQuality
SIO_000300: 7.47475e5

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

QD
type: SiteQuality
SIO_000300: 1.339e1

GenotypeQuality
all individuals: 155
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 216
bin: 4.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3012
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1276
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 376
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 19340
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4590
num of homozygotes: 0

South Asian
type: Population
allele count: 31
allele frequency: 4.096194503171248e-3
allele num: 7568
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2900
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.05e0

VQSLOD
type: SiteQuality
SIO_000300: 1.05e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 8.04942e5

MQRankSum
type: SiteQuality
SIO_000300: 2.59e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.427e1

FS
type: SiteQuality
SIO_000300: 3.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.75e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.45e-1

GenotypeQuality
all individuals: 1480
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8203
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 1.524545177355422e-4
allele num: 19678
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3038
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1320
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.134016218523261e-4
allele num: 4686
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2958
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 380
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7694
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.63e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 6.84e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 9.419999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.99e-1

QD
type: SiteQuality
SIO_000300: 1.721e1

DP
type: SiteQuality
SIO_000300: 8.11761e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.7e-1

FS
type: SiteQuality
SIO_000300: 2.32e0

MQRankSum
type: SiteQuality
SIO_000300: 3.1e-2

GenotypeQuality
all individuals: 440
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 712
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 408
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5688
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3814
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3524
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9714
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 456
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1884
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.014129736673089e-5
allele num: 24912
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.44e0

MQRankSum
type: SiteQuality
SIO_000300: 7.71e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.456e0

FS
type: SiteQuality
SIO_000300: 4.602e0

QD
type: SiteQuality
SIO_000300: 5.3e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.01e-2

DP
type: SiteQuality
SIO_000300: 9.29393e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.64e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.78e-1

GenotypeQuality
all individuals: 195
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 571
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1632
bin: 2.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4090
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3750
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2222
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10428
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 500
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.660322108345534e-5
allele num: 27320
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6146
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.491e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.11e0

FS
type: SiteQuality
SIO_000300: 2.257e0

DP
type: SiteQuality
SIO_000300: 9.70949e5

QD
type: SiteQuality
SIO_000300: 6.0e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.404e0

GenotypeQuality
all individuals: 476
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 345
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 558
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.316482359136387e-4
allele num: 7596
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 37792
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4708
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4376
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5104
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12334
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 614
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.42e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.33e-1

QD
type: SiteQuality
SIO_000300: 1.261e1

MQRankSum
type: SiteQuality
SIO_000300: -5.03e-1

DP
type: SiteQuality
SIO_000300: 1.128096e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.173e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-3

GenotypeQuality
all individuals: 668
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 579
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 634
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 430
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 646
bin: 7.75e1
variant carriers: 1

Latino
type: Population
allele count: 12
allele frequency: 1.834301436869459e-3
allele num: 6542
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 6.596596156383306e-5
allele num: 45478
num of homozygotes: 0

African
type: Population
allele count: 251
allele frequency: 2.986673012851023e-2
allele num: 8404
num of homozygotes: 5

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5894
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13486
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 696
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.91e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.2e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.41e-1

DP
type: SiteQuality
SIO_000300: 1.243994e6

QD
type: SiteQuality
SIO_000300: 1.505e1

VQSLOD
type: SiteQuality
SIO_000300: 6.19e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.800000000000001e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.11e0

GenotypeQuality
all individuals: 637
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 693
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.585514521333812e-4
allele num: 5578
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6192
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13858
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7340
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48056
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 734
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.66e-1

DP
type: SiteQuality
SIO_000300: 1.274262e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.45e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.77e-1

FS
type: SiteQuality
SIO_000300: 9.800000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: -7.995e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.241e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

MQ
type: SiteQuality
SIO_000300: 5.966e1

QD
type: SiteQuality
SIO_000300: 9.6e0

GenotypeQuality
all individuals: 3196
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 719
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 469
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36131
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 6
allele frequency: 9.041591320072332e-4
allele num: 6636
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8426
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5844
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.941552131056504e-5
allele num: 14406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.919017463058914e-5
allele num: 52110
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8838
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.484e1

FS
type: SiteQuality
SIO_000300: 5.86e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.65e-1

DP
type: SiteQuality
SIO_000300: 1.335767e6

MQRankSum
type: SiteQuality
SIO_000300: -4.82e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.93e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.285e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.11e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 2596
bin: 9.75e1
variant carriers: 25

GenotypeQuality
all individuals: 360
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 1.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6774
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14534
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.36624775583483e-4
allele num: 8912
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.147315282239559e-4
allele num: 8716
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5918
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 21
allele frequency: 3.956441463506538e-4
allele num: 53078
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 774
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.999e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.27e-1

DP
type: SiteQuality
SIO_000300: 1.351694e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.26e0

MQRankSum
type: SiteQuality
SIO_000300: 2.01e-1

FS
type: SiteQuality
SIO_000300: 5.639999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.24e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

QD
type: SiteQuality
SIO_000300: 1.35e1

GenotypeQuality
all individuals: 858
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 707
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 475
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9202
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.730942325001731e-5
allele num: 57772
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7336
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6230
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 5.9e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.4186e6

QD
type: SiteQuality
SIO_000300: 1.595e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.31e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.64e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.69e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.159e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 769
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 682
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2576
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10052
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.522306287503261e-5
allele num: 15332
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7418
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9250
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6274
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 816
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58482
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.1e-2

DP
type: SiteQuality
SIO_000300: 1.430017e6

QD
type: SiteQuality
SIO_000300: 3.019e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.881e0

MQRankSum
type: SiteQuality
SIO_000300: -6.21e-1

MQ
type: SiteQuality
SIO_000300: 5.954e1

FS
type: SiteQuality
SIO_000300: 1.356e0

GenotypeQuality
all individuals: 501
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 422
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 789
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 270
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10256
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.467468632777131e-5
allele num: 15462
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9298
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59352
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7538
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6310
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.46e0

VQSLOD
type: SiteQuality
SIO_000300: 8.139999999999999e-1

FS
type: SiteQuality
SIO_000300: 1.461e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.85e-1

QD
type: SiteQuality
SIO_000300: 1.37e1

DP
type: SiteQuality
SIO_000300: 1.443483e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 6.820000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.11e-1

GenotypeQuality
all individuals: 2591
bin: 9.75e1
variant carriers: 14

GenotypeQuality
all individuals: 407
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 716
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 1.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 14
allele frequency: 2.328443601769617e-4
allele num: 60126
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15576
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10440
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6344
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7636
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9352
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 830
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.63e0

QD
type: SiteQuality
SIO_000300: 1.495e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.85e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.457655e6

FS
type: SiteQuality
SIO_000300: 6.02e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.0e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.05e-1

GenotypeQuality
all individuals: 228
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4245
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 197
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.571832756994656e-5
allele num: 63620
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9562
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11134
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16092
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8142
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6488
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.041e1

MQRankSum
type: SiteQuality
SIO_000300: -7.000000000000001e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.341e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.87e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.59e0

DP
type: SiteQuality
SIO_000300: 1.517951e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

GenotypeQuality
all individuals: 196
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 810
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9578
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8200
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6502
num of homozygotes: 0

South Asian
type: Population
allele count: 8
allele frequency: 4.952333787297264e-4
allele num: 16154
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64036
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11184
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.08e0

MQRankSum
type: SiteQuality
SIO_000300: -9.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.47e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.21e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.27e-1

FS
type: SiteQuality
SIO_000300: 1.931e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
SIO_000300: 1.524451e6

MQ
type: SiteQuality
SIO_000300: 5.966e1

QD
type: SiteQuality
SIO_000300: 1.146e1

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

GenotypeQuality
all individuals: 228
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 825
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 14
allele frequency: 1.227208976157083e-3
allele num: 11408
num of homozygotes: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9722
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.041455032087351e-5
allele num: 65758
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16404
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.28e-2

DP
type: SiteQuality
SIO_000300: 1.555993e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.93e-1

MQ
type: SiteQuality
SIO_000300: 5.948e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.799999999999999e-2

MQRankSum
type: SiteQuality
SIO_000300: -3.3e-2

QD
type: SiteQuality
SIO_000300: 1.209e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.417e0

VQSLOD
type: SiteQuality
SIO_000300: 3.39e0

GenotypeQuality
all individuals: 65
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 830
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9730
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65924
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
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: 16418
num of homozygotes: 0

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

East Asian
type: Population
allele count: 16
allele frequency: 1.876172607879925e-3
allele num: 8528
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.152e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.25e0

MQRankSum
type: SiteQuality
SIO_000300: -1.08e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

QD
type: SiteQuality
SIO_000300: 1.296e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
SIO_000300: 1.55908e6

GenotypeQuality
all individuals: 226
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2579
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 413
bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 3
allele frequency: 3.079449804968179e-4
allele num: 9742
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11444
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66070
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -3.9e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.753e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.85e-1

FS
type: SiteQuality
SIO_000300: 2.472e0

DP
type: SiteQuality
SIO_000300: 1.561285e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.48e-1

QD
type: SiteQuality
SIO_000300: 1.412e1

VQSLOD
type: SiteQuality
SIO_000300: 1.79e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4